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Q8WZ42 (TITIN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Titin

EC=2.7.11.1
Alternative name(s):
Connectin
Rhabdomyosarcoma antigen MU-RMS-40.14
Gene names
Name:TTN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length34350 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase. Ref.28

Catalytic activity

ATP + a protein = ADP + a phosphoprotein.

Cofactor

Magnesium.

Enzyme regulation

Full activation of the protein kinase domain requires both phosphorylation of Tyr-32341, preventing it from blocking the catalytic aspartate residue, and binding of Ca/CALM to the C-terminal regulatory tail of the molecule which results in ATP binding to the kinase. Ref.28

Subunit structure

Interacts with MYOM1, MYOM2, tropomyosin and myosin. Interacts with actin, primarily via the PEVK domains and with MYPN By similarity. Interacts with FHL2, NEB, CRYAB, LMNA/lamin-A and LMNB/lamin-B. Interacts with TCAP/telethonin and/or ANK1 isoform Mu17/ank15, via the first two N-terminal immunoglobulin domains. Interacts with TRIM63 and TRIM55, through several domains including immunoglobulin domains 141 and 142. Interacts with ANKRD1, ANKRD2 and ANKRD23, via the region between immunoglobulin domains 77 and 78 and interacts with CAPN3, via immunoglobulin domain 79. Interacts with NBR1 through the protein kinase domain. Interacts with CALM/calmodulin. Isoform 6 interacts with OBSCN isoform 3. Interacts with CMYA5. Ref.3 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.26 Ref.28 Ref.38

Subcellular location

Cytoplasm Probable. Nucleus Ref.23.

Tissue specificity

Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level). Ref.3 Ref.7

Domain

ZIS1 and ZIS5 regions contain multiple SPXR consensus sites for ERK- and CDK-like protein kinases as well as multiple SP motifs. ZIS1 could adopt a closed conformation which would block the TCAP-binding site.

The PEVK region may serve as an entropic spring of a chain of structural folds and may also be an interaction site to other myofilament proteins to form interfilament connectivity in the sarcomere.

Post-translational modification

Autophosphorylated By similarity. Ref.14 Ref.28

Involvement in disease

Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]: Autosomal dominant, adult-onset myopathy with early respiratory muscle involvement.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.38

Cardiomyopathy, familial hypertrophic 9 (CMH9) [MIM:613765]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.32

Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.35 Ref.37

Tardive tibial muscular dystrophy (TMD) [MIM:600334]: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.33 Ref.36

Limb-girdle muscular dystrophy 2J (LGMD2J) [MIM:608807]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Early-onset myopathy with fatal cardiomyopathy (EOMFC) [MIM:611705]: Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titin's C-terminal end from striated muscles and to secondary CAPN3 depletion.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.39

Miscellaneous

In some isoforms, after the PEVK repeat region there is a long PEVK duplicated region. On account of this region, it has been very difficult to sequence the whole protein. The length of this region (ranging from 183 to 2174 residues), may be a key elastic element of titin.

Sequence similarities

Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.

Contains 132 fibronectin type-III domains.

Contains 152 Ig-like (immunoglobulin-like) domains.

Contains 19 Kelch repeats.

Contains 1 protein kinase domain.

Contains 17 RCC1 repeats.

Contains 14 TPR repeats.

Contains 15 WD repeats.

Sequence caution

The sequence AAH58824.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence starting in position 553.

The sequence AAH70170.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence starting in position 627.

The sequence CAA62188.1 differs from that shown. Reason: Frameshift at positions 17036 and 17043.

The sequence CAD12455.1 differs from that shown. Reason: Frameshift at positions 17036 and 17043.

Ontologies

Keywords
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCardiomyopathy
Disease mutation
Limb-girdle muscular dystrophy
   DomainCoiled coil
Immunoglobulin domain
Kelch repeat
Repeat
TPR repeat
WD repeat
   LigandATP-binding
Calcium
Calmodulin-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionKinase
Serine/threonine-protein kinase
Transferase
   PTMDisulfide bond
Isopeptide bond
Phosphoprotein
Ubl conjugation
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processadult heart development

Inferred from electronic annotation. Source: Ensembl

blood coagulation

Traceable author statement. Source: Reactome

cardiac muscle contraction

Inferred from mutant phenotype Ref.34. Source: BHF-UCL

cardiac muscle fiber development

Inferred from mutant phenotype PubMed 9817758. Source: BHF-UCL

cardiac muscle hypertrophy

Inferred from mutant phenotype Ref.34. Source: BHF-UCL

cardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 9817758. Source: BHF-UCL

cardiac myofibril assembly

Inferred from mutant phenotype Ref.34PubMed 9817758. Source: BHF-UCL

detection of muscle stretch

Traceable author statement PubMed 12507422. Source: BHF-UCL

forward locomotion

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

mitotic chromosome condensation

Inferred from expression pattern PubMed 9548712. Source: BHF-UCL

muscle contraction

Non-traceable author statement PubMed 10481174. Source: UniProtKB

muscle filament sliding

Traceable author statement. Source: Reactome

platelet activation

Traceable author statement. Source: Reactome

platelet degranulation

Traceable author statement. Source: Reactome

regulation of catalytic activity

Inferred from mutant phenotype Ref.28. Source: BHF-UCL

regulation of protein kinase activity

Inferred from mutant phenotype Ref.28. Source: BHF-UCL

response to calcium ion

Inferred from direct assay PubMed 7607248. Source: BHF-UCL

sarcomere organization

Inferred from mutant phenotype Ref.34PubMed 9817758. Source: BHF-UCL

sarcomerogenesis

Inferred from mutant phenotype PubMed 9817758. Source: BHF-UCL

skeletal muscle myosin thick filament assembly

Inferred from mutant phenotype PubMed 9817758. Source: BHF-UCL

skeletal muscle thin filament assembly

Inferred from mutant phenotype PubMed 9817758. Source: BHF-UCL

striated muscle contraction

Traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentGolgi apparatus

Inferred from direct assay. Source: HPA

I band

Inferred from direct assay PubMed 9817758. Source: BHF-UCL

M band

Inferred from direct assay Ref.3. Source: BHF-UCL

Z disc

Inferred from direct assay Ref.3. Source: BHF-UCL

condensed nuclear chromosome

Inferred from direct assay PubMed 9548712. Source: BHF-UCL

cytoplasm

Inferred from direct assay. Source: HPA

cytosol

Traceable author statement. Source: Reactome

extracellular region

Traceable author statement. Source: Reactome

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

nucleus

Inferred from direct assay. Source: HPA

striated muscle thin filament

Inferred from direct assay Ref.3. Source: BHF-UCL

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

actin filament binding

Inferred from direct assay PubMed 9501083. Source: BHF-UCL

actinin binding

Inferred from direct assay PubMed 9501083. Source: BHF-UCL

calcium ion binding

Inferred from direct assay PubMed 7607248. Source: BHF-UCL

calmodulin binding

Traceable author statement PubMed 10481174. Source: UniProtKB

enzyme binding

Inferred from physical interaction PubMed 18310072. Source: UniProtKB

identical protein binding

Inferred from physical interaction PubMed 23414517Ref.28. Source: IntAct

muscle alpha-actinin binding

Inferred from physical interaction PubMed 9501083. Source: BHF-UCL

protease binding

Inferred from physical interaction PubMed 9642272. Source: UniProtKB

protein kinase binding

Inferred from physical interaction PubMed 23283722. Source: BHF-UCL

protein self-association

Inferred from direct assay Ref.28. Source: BHF-UCL

protein serine/threonine kinase activity

Inferred from direct assay Ref.28. Source: UniProtKB

protein tyrosine kinase activity

Inferred from electronic annotation. Source: InterPro

structural constituent of muscle

Traceable author statement Ref.1. Source: UniProtKB

structural molecule activity conferring elasticity

Traceable author statement PubMed 23283722. Source: BHF-UCL

telethonin binding

Inferred from physical interaction Ref.34PubMed 15582318. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 13 isoforms produced by alternative splicing. [Align] [Select]

Note: A number of isoforms may be produced, ranging from 27000 to 33000 residues in different striated muscle tissues, the size of the full length protein may be up to 38138 residues.
Isoform 1 (identifier: Q8WZ42-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q8WZ42-2)

The sequence of this isoform differs from the canonical sequence as follows:
     555-646: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8WZ42-3)

Also known as: Small cardiac N2-B;

The sequence of this isoform differs from the canonical sequence as follows:
     556-601: Missing.
     4474-11851: Missing.
Isoform 4 (identifier: Q8WZ42-4)

Also known as: Soleus;

The sequence of this isoform differs from the canonical sequence as follows:
     3454-4380: Missing.
     11507-11507: E → EVFEEPEESPSAPPKKPEVPPVR
Note: No experimental confirmation available.
Isoform 5 (identifier: Q8WZ42-5)

The sequence of this isoform differs from the canonical sequence as follows:
     10382-10645: Missing.
     10742-10931: Missing.
     11015-11163: Missing.
     11223-11852: Missing.
     11985-12201: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q8WZ42-6)

Also known as: Small cardiac novex-3;

The sequence of this isoform differs from the canonical sequence as follows:
     3455-5604: FSSSFLSAEE...VLDLIIPPSF → LFSEGESEHS...AESFAALTLT
     5605-34350: Missing.
Note: Contains a phosphothreonine at position 5304. Contains a phosphoserine at position 5306. Ref.3 (CAD12457) sequence is in conflict in positions: 3732:L->F and 5139:R->M.
Isoform 7 (identifier: Q8WZ42-7)

Also known as: Cardiac novex-2;

The sequence of this isoform differs from the canonical sequence as follows:
     3435-3645: APESILHERI...LPAIFEYTVV → VQALDRQSSG...IEQEIEMEMK
     3646-4380: Missing.
Isoform 8 (identifier: Q8WZ42-8)

Also known as: Cardiac novex-1;

The sequence of this isoform differs from the canonical sequence as follows:
     3434-3434: E → EGFSKFEENT...CAATLTVTPK
Isoform 9 (identifier: Q8WZ42-9)

The sequence of this isoform differs from the canonical sequence as follows:
     556-601: Missing.
     3434-3434: E → EVQALDRQSS...TTSAVLSVEG
     4474-11851: Missing.
Isoform 10 (identifier: Q8WZ42-10)

The sequence of this isoform differs from the canonical sequence as follows:
     556-601: Missing.
     3434-3434: E → EGFSKFEENT...CAATLTVTPK
     4474-11851: Missing.
Isoform 11 (identifier: Q8WZ42-11)

The sequence of this isoform differs from the canonical sequence as follows:
     3454-4380: Missing.
Isoform 12 (identifier: Q8WZ42-12)

The sequence of this isoform differs from the canonical sequence as follows:
     3434-3434: E → EGFSKFEENT...TTSAVLSVEG
     11117-11117: I → VPKKPVPEKKVPVPAPKKVEPPPPPKVPEI
     11133-11133: E → EAPPAKVSVVPKKPEPEKKVPPPGLKKAV
     11421-11421: K → KAPEVPKKIV...PPKPESPPPE
     11450-11450: P → PKVPEAPKEV...PPKKPEVPPV
     11507-11507: E → EVPEVLPPKE...PKKPEVPPVK
     11793-11793: P → PEMPKKVVPV...QPEEIPVKEP
Note: No experimental confirmation available.
Isoform 13 (identifier: Q8WZ42-13)

The sequence of this isoform differs from the canonical sequence as follows:
     11790-11790: P → PKEPEMPKKV...PEPQPEEIPV
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 3435034350Titin
PRO_0000239311

Regions

Domain6 – 9691Ig-like 1
Domain104 – 19289Ig-like 2
Repeat417 – 46246Z-repeat 1
Repeat466 – 51146Z-repeat 2
Repeat512 – 55443Z-repeat 3
Repeat555 – 60046Z-repeat 4
Repeat601 – 64646Z-repeat 5
Repeat647 – 69145Z-repeat 6
Repeat692 – 74049Z-repeat 7
Domain943 – 103189Ig-like 3
Domain1082 – 117291Ig-like 4
Domain1291 – 138292Ig-like 5
Domain1457 – 154690Ig-like 6
Domain1556 – 164691Ig-like 7
Domain1703 – 179391Ig-like 8
Domain1841 – 192888Ig-like 9
Domain2078 – 216790Ig-like 10
Repeat2089 – 212234TPR 1
Domain2171 – 226292Ig-like 11
Domain2264 – 235491Ig-like 12
Domain2353 – 244391Ig-like 13
Domain2430 – 2529100Ig-like 14
Domain2620 – 270384Ig-like 15
Repeat2804 – 283835TPR 2
Domain2880 – 296586Ig-like 16
Domain2968 – 305083Ig-like 17
Repeat3022 – 306241WD 1
Domain3058 – 314184Ig-like 18
Domain3239 – 332789Ig-like 19
Domain3344 – 343289Ig-like 20
Domain3503 – 358684Ig-like 21
Domain3621 – 371292Ig-like 22
Repeat4168 – 420336TPR 3
Domain4289 – 437688Ig-like 23
Domain4383 – 447189Ig-like 24
Domain4478 – 456689Ig-like 25
Domain4571 – 465989Ig-like 26
Domain4664 – 475390Ig-like 27
Domain4758 – 484689Ig-like 28
Domain4851 – 493686Ig-like 29
Repeat4860 – 490445Kelch 1
Domain4943 – 503290Ig-like 30
Domain5040 – 512889Ig-like 31
Domain5133 – 522189Ig-like 32
Repeat5170 – 520334TPR 4
Domain5225 – 531490Ig-like 33
Domain5320 – 540889Ig-like 34
Domain5413 – 550189Ig-like 35
Domain5505 – 559490Ig-like 36
Domain5602 – 569089Ig-like 37
Domain5695 – 578389Ig-like 38
Domain5788 – 587790Ig-like 39
Domain5882 – 597089Ig-like 40
Domain5975 – 606389Ig-like 41
Domain6067 – 615690Ig-like 42
Domain6164 – 625289Ig-like 43
Domain6257 – 634791Ig-like 44
Domain6350 – 644091Ig-like 45
Domain6444 – 653491Ig-like 46
Repeat6474 – 650734TPR 5
Domain6537 – 662690Ig-like 47
Domain6630 – 672192Ig-like 48
Repeat6654 – 669239WD 2
Domain6727 – 681589Ig-like 49
Domain6820 – 690889Ig-like 50
Domain6912 – 700190Ig-like 51
Domain7005 – 709389Ig-like 52
Domain7102 – 719089Ig-like 53
Domain7198 – 728689Ig-like 54
Domain7291 – 738090Ig-like 55
Domain7385 – 747389Ig-like 56
Repeat7415 – 744834TPR 6
Domain7478 – 756790Ig-like 57
Domain7571 – 766292Ig-like 58
Domain7668 – 775689Ig-like 59
Domain7761 – 784989Ig-like 60
Domain7853 – 794290Ig-like 61
Domain7946 – 803590Ig-like 62
Domain8042 – 813392Ig-like 63
Domain8138 – 822992Ig-like 64
Domain8232 – 832190Ig-like 65
Domain8326 – 841489Ig-like 66
Domain8419 – 850890Ig-like 67
Domain8512 – 860392Ig-like 68
Domain8609 – 869789Ig-like 69
Domain8702 – 879089Ig-like 70
Domain8794 – 888390Ig-like 71
Domain8888 – 897689Ig-like 72
Domain8984 – 907491Ig-like 73
Domain9079 – 916890Ig-like 74
Domain9176 – 926590Ig-like 75
Repeat9184 – 922138TPR 7
Domain9272 – 936190Ig-like 76
Domain9366 – 9470105Ig-like 77
Domain9660 – 975596Ig-like 78
Repeat9701 – 973434TPR 8
Domain9760 – 985192Ig-like 79
Repeat10031 – 1006434TPR 9
Repeat10041 – 1008747Kelch 2
Repeat10216 – 1024227PEVK 1
Repeat10244 – 1027027PEVK 2
Repeat10272 – 1029827PEVK 3
Repeat10300 – 1032627PEVK 4
Repeat10327 – 1035327PEVK 5
Repeat10355 – 1038127PEVK 6
Repeat10508 – 1053427PEVK 7
Repeat10536 – 1056227PEVK 8
Repeat10592 – 1061827PEVK 9
Repeat10878 – 1090427PEVK 10
Repeat10906 – 1093025PEVK 11
Repeat10932 – 1095827PEVK 12
Repeat10960 – 1098627PEVK 13
Repeat10987 – 1101428PEVK 14
Repeat11363 – 1139634PEVK 15
Repeat11397 – 1142125PEVK 16
Repeat11453 – 1147927PEVK 17
Repeat11481 – 1150727PEVK 18
Repeat11509 – 1153527PEVK 19
Repeat11537 – 1156327PEVK 20
Repeat11565 – 1159127PEVK 21
Repeat11657 – 1168327PEVK 22
Repeat11703 – 1172927PEVK 23
Repeat11745 – 1177127PEVK 24
Repeat11775 – 1180127PEVK 25
Repeat11836 – 1186227PEVK 26
Repeat11864 – 1189027PEVK 27
Repeat11893 – 1191927PEVK 28
Repeat11929 – 1195527PEVK 29
Repeat11966 – 1199227PEVK 30
Repeat11996 – 1202227PEVK 31
Domain12041 – 1213393Ig-like 80
Domain12138 – 1222285Ig-like 81
Domain12233 – 1231886Ig-like 82
Domain12499 – 1258486Ig-like 83
Domain12590 – 1267283Ig-like 84
Domain12766 – 1285085Ig-like 85
Domain12945 – 1303288Ig-like 86
Repeat12955 – 1298834TPR 10
Domain13120 – 1320687Ig-like 87
Domain13210 – 1329586Ig-like 88
Domain13299 – 1338486Ig-like 89
Domain13388 – 1347891Ig-like 90
Repeat13391 – 1343242WD 3
Repeat13443 – 1348543WD 4
Domain13479 – 1356284Ig-like 91
Domain13565 – 1365591Ig-like 92
Domain13659 – 1374890Ig-like 93
Repeat13714 – 1375340WD 5
Domain13749 – 1383385Ig-like 94
Domain13927 – 1401286Ig-like 95
Domain14019 – 1411496Fibronectin type-III 1
Repeat14084 – 1413653RCC1 1
Domain14120 – 1421596Fibronectin type-III 2
Repeat14185 – 1423854RCC1 2
Domain14221 – 1431696Fibronectin type-III 3
Domain14417 – 1451397Fibronectin type-III 4
Domain14517 – 1461498Fibronectin type-III 5
Domain14615 – 1470894Ig-like 96
Domain14713 – 1480694Fibronectin type-III 6
Domain14812 – 1490796Fibronectin type-III 7
Repeat14828 – 1487649Kelch 3
Domain14913 – 1500795Fibronectin type-III 8
Repeat14986 – 1503651Kelch 4
Domain15010 – 1510798Fibronectin type-III 9
Repeat15077 – 1513054RCC1 3
Domain15113 – 1520795Fibronectin type-III 10
Domain15214 – 1531097Fibronectin type-III 11
Domain15314 – 1540289Ig-like 97
Domain15409 – 1550395Fibronectin type-III 12
Domain15509 – 1560496Fibronectin type-III 13
Repeat15574 – 1563057RCC1 4
Domain15608 – 15724117Ig-like 98
Domain15731 – 1582696Fibronectin type-III 14
Domain15832 – 1592695Fibronectin type-III 15
Domain15929 – 1602597Fibronectin type-III 16
Domain16029 – 1611991Ig-like 99
Domain16126 – 1621893Fibronectin type-III 17
Repeat16134 – 1618047WD 6
Domain16224 – 1631895Fibronectin type-III 18
Domain16322 – 1642099Ig-like 100
Domain16427 – 1652296Fibronectin type-III 19
Domain16528 – 16628101Fibronectin type-III 20
Domain16634 – 16734101Fibronectin type-III 21
Domain16727 – 16834108Ig-like 101
Domain16841 – 1693494Fibronectin type-III 22
Domain16941 – 17041101Fibronectin type-III 23
Domain17044 – 1713996Ig-like 102
Domain17147 – 1724094Fibronectin type-III 24
Domain17246 – 17345100Fibronectin type-III 25
Domain17348 – 1744598Fibronectin type-III 26
Domain17449 – 1753688Ig-like 103
Domain17545 – 1764096Fibronectin type-III 27
Domain17646 – 1774196Fibronectin type-III 28
Repeat17711 – 1776959RCC1 5
Domain17745 – 1783490Ig-like 104
Domain17842 – 1793594Fibronectin type-III 29
Repeat17930 – 1796940WD 7
Domain17941 – 1803696Fibronectin type-III 30
Repeat18006 – 1805550RCC1 6
Domain18042 – 1813998Fibronectin type-III 31
Domain18143 – 1822886Ig-like 105
Domain18239 – 1833395Fibronectin type-III 32
Repeat18258 – 1830346Kelch 5
Repeat18303 – 1835856RCC1 7
Domain18339 – 1843193Fibronectin type-III 33
Domain18435 – 1852692Ig-like 106
Domain18533 – 18632100Fibronectin type-III 34
Repeat18553 – 1859846Kelch 6
Domain18633 – 1872795Fibronectin type-III 35
Domain18733 – 1882997Fibronectin type-III 36
Domain18833 – 1892492Ig-like 107
Domain18931 – 1902595Fibronectin type-III 37
Domain19030 – 1912495Fibronectin type-III 38
Domain19128 – 1921992Ig-like 108
Domain19226 – 1932196Fibronectin type-III 39
Repeat19290 – 1934657RCC1 8
Domain19325 – 1942096Fibronectin type-III 40
Repeat19389 – 1945264RCC1 9
Domain19426 – 19527102Fibronectin type-III 41
Domain19531 – 1961787Ig-like 109
Domain19628 – 1972295Fibronectin type-III 42
Repeat19647 – 1969246Kelch 7
Domain19728 – 1982396Fibronectin type-III 43
Domain19826 – 1991489Ig-like 110
Domain19921 – 2001797Fibronectin type-III 44
Domain20018 – 2011699Fibronectin type-III 45
Domain20119 – 2021799Fibronectin type-III 46
Domain20220 – 2031192Ig-like 111
Domain20318 – 2041194Fibronectin type-III 47
Domain20417 – 2051296Fibronectin type-III 48
Domain20518 – 2061396Fibronectin type-III 49
Domain20716 – 2081398Fibronectin type-III 50
Domain20814 – 2090895Fibronectin type-III 51
Repeat20833 – 2087644Kelch 8
Domain20893 – 20996104Ig-like 112
Domain21006 – 2110196Fibronectin type-III 52
Repeat21069 – 2112557RCC1 10
Domain21105 – 2120096Fibronectin type-III 53
Domain21203 – 2129997Fibronectin type-III 54
Repeat21222 – 2126746Kelch 9
Domain21303 – 2139593Ig-like 113
Domain21402 – 2149594Fibronectin type-III 55
Domain21501 – 2159696Fibronectin type-III 56
Repeat21565 – 2162056RCC1 11
Domain21602 – 2169796Fibronectin type-III 57
Domain21701 – 2179393Ig-like 114
Domain21797 – 2189195Fibronectin type-III 58
Repeat21860 – 2191051RCC1 12
Domain21894 – 2198693Fibronectin type-III 59
Domain21990 – 2208394Ig-like 115
Domain22088 – 2218295Fibronectin type-III 60
Domain22188 – 2228396Fibronectin type-III 61
Domain22286 – 2238297Fibronectin type-III 62
Repeat22306 – 2235045Kelch 10
Domain22386 – 2247792Ig-like 116
Domain22484 – 2257895Fibronectin type-III 63
Domain22584 – 2267996Fibronectin type-III 64
Domain22685 – 2278197Fibronectin type-III 65
Domain22785 – 2287490Ig-like 117
Domain22881 – 2297696Fibronectin type-III 66
Domain22978 – 2307194Fibronectin type-III 67
Repeat23041 – 2309151RCC1 13
Domain23075 – 2316389Ig-like 118
Domain23170 – 2326495Fibronectin type-III 68
Domain23270 – 2336495Fibronectin type-III 69
Domain23368 – 2346396Fibronectin type-III 70
Domain23468 – 2355588Ig-like 119
Domain23566 – 2366095Fibronectin type-III 71
Repeat23651 – 2369444WD 8
Domain23666 – 2376196Fibronectin type-III 72
Domain23767 – 2386397Fibronectin type-III 73
Domain23867 – 2395488Ig-like 120
Domain23963 – 2405795Fibronectin type-III 74
Repeat24027 – 2407650RCC1 14
Domain24060 – 2415394Fibronectin type-III 75
Repeat24079 – 2412446Kelch 11
Domain24157 – 2424185Ig-like 121
Domain24252 – 2434695Fibronectin type-III 76
Repeat24261 – 2430747WD 9
Domain24352 – 2444695Fibronectin type-III 77
Domain24450 – 2454697Fibronectin type-III 78
Domain24550 – 2464192Ig-like 122
Domain24648 – 2474295Fibronectin type-III 79
Domain24748 – 2484396Fibronectin type-III 80
Domain24849 – 2494597Fibronectin type-III 81
Repeat24868 – 2491649Kelch 12
Domain24949 – 2503890Ig-like 123
Domain25045 – 2513995Fibronectin type-III 82
Domain25142 – 2523594Fibronectin type-III 83
Domain25239 – 2532587Ig-like 124
Domain25335 – 2542894Fibronectin type-III 84
Repeat25343 – 2538947WD 10
Repeat25419 – 2546244WD 11
Domain25434 – 2552996Fibronectin type-III 85
Domain25532 – 2562796Fibronectin type-III 86
Domain25632 – 2572291Ig-like 125
Domain25731 – 2582595Fibronectin type-III 87
Domain25831 – 2592696Fibronectin type-III 88
Domain25932 – 2602897Fibronectin type-III 89
Repeat25951 – 2599747Kelch 13
Domain26032 – 2612190Ig-like 126
Domain26128 – 2622295Fibronectin type-III 90
Domain26225 – 2631894Fibronectin type-III 91
Repeat26244 – 2628946Kelch 14
Domain26322 – 2641089Ig-like 127
Domain26417 – 2651094Fibronectin type-III 92
Repeat26501 – 2654444WD 12
Domain26516 – 2661196Fibronectin type-III 93
Domain26614 – 2671097Fibronectin type-III 94
Domain26714 – 2680188Ig-like 128
Domain26812 – 2690695Fibronectin type-III 95
Domain26912 – 2700796Fibronectin type-III 96
Domain27013 – 2710795Fibronectin type-III 97
Repeat27077 – 2712751RCC1 15
Domain27101 – 2719696Ig-like 129
Domain27205 – 2729692Fibronectin type-III 98
Repeat27271 – 2732050RCC1 16
Domain27302 – 2739291Fibronectin type-III 99
Repeat27323 – 2736846Kelch 15
Domain27499 – 2759395Fibronectin type-III 100
Domain27599 – 2769496Fibronectin type-III 101
Domain27697 – 2779397Fibronectin type-III 102
Domain27797 – 2788892Ig-like 130
Domain27895 – 2798995Fibronectin type-III 103
Domain27995 – 2809096Fibronectin type-III 104
Repeat28062 – 2809534TPR 11
Domain28096 – 2819297Fibronectin type-III 105
Domain28196 – 2828691Ig-like 131
Domain28295 – 2838995Fibronectin type-III 106
Domain28392 – 2848493Fibronectin type-III 107
Domain28488 – 2857790Ig-like 132
Domain28583 – 2868098Fibronectin type-III 108
Repeat28606 – 2865146Kelch 16
Repeat28671 – 2871444WD 13
Domain28686 – 2878196Fibronectin type-III 109
Domain28784 – 2887996Fibronectin type-III 110
Domain28882 – 2897493Ig-like 133
Domain28979 – 2907193Fibronectin type-III 111
Repeat29046 – 2910156RCC1 17
Domain29081 – 2917797Fibronectin type-III 112
Domain29180 – 2927899Fibronectin type-III 113
Domain29282 – 2936786Ig-like 134
Domain29378 – 2947396Fibronectin type-III 114
Domain29475 – 2956894Fibronectin type-III 115
Domain29568 – 2966396Ig-like 135
Domain29670 – 2976495Fibronectin type-III 116
Domain29770 – 2986596Fibronectin type-III 117
Domain29868 – 29967100Fibronectin type-III 118
Domain29971 – 3005989Ig-like 136
Domain30070 – 3016394Fibronectin type-III 119
Domain30169 – 3026597Fibronectin type-III 120
Domain30271 – 3036797Fibronectin type-III 121
Domain30371 – 3046090Ig-like 137
Domain30467 – 3056195Fibronectin type-III 122
Domain30564 – 3065895Fibronectin type-III 123
Domain30663 – 3075492Ig-like 138
Domain30761 – 3085595Fibronectin type-III 124
Domain30861 – 3095696Fibronectin type-III 125
Repeat30880 – 3092546Kelch 17
Domain30962 – 3105897Fibronectin type-III 126
Domain31061 – 3115090Ig-like 139
Domain31158 – 3125497Fibronectin type-III 127
Domain31258 – 3135497Fibronectin type-III 128
Domain31360 – 3145596Fibronectin type-III 129
Domain31460 – 3154889Ig-like 140
Domain31653 – 3174896Fibronectin type-III 130
Repeat31739 – 3178244WD 14
Domain31754 – 3184996Fibronectin type-III 131
Domain31855 – 3194591Ig-like 141
Repeat31892 – 3193746WD 15
Domain31955 – 3204692Ig-like 142
Domain32051 – 3214494Fibronectin type-III 132
Repeat32070 – 3211546Kelch 18
Domain32178 – 32432255Protein kinase
Domain32496 – 3258489Ig-like 143
Repeat32503 – 3254947Kelch 19
Domain32617 – 3271094Ig-like 144
Domain32722 – 3281190Ig-like 145
Repeat32927 – 3296034TPR 12
Repeat33235 – 3326834TPR 13
Domain33301 – 3339191Ig-like 146
Domain33488 – 3357689Ig-like 147
Repeat33518 – 3355134TPR 14
Domain33645 – 3373288Ig-like 148
Domain33779 – 3386789Ig-like 149
Domain33963 – 3405290Ig-like 150
Domain34061 – 3414989Ig-like 151
Domain34256 – 3434489Ig-like 152
Nucleotide binding32184 – 321929ATP By similarity
Region253 – 34189ZIS1
Region1410 – 144031ZIS5
Coiled coil529 – 56133 Potential
Coiled coil2025 – 205228 Potential
Coiled coil3462 – 348726 Potential
Coiled coil9534 – 957744 Potential
Compositional bias391 – 43646Ala-rich
Compositional bias453 – 4564Poly-Thr
Compositional bias9500 – 95034Poly-Glu
Compositional bias9861 – 995292Pro-rich
Compositional bias9974 – 119171944Glu-rich
Compositional bias9974 – 10089116Glu-rich
Compositional bias10102 – 101054Poly-Pro
Compositional bias10211 – 120321822Pro-rich
Compositional bias33188 – 331936Poly-Ser
Compositional bias33197 – 332004Poly-Arg
Compositional bias34102 – 34244143Ser-rich

Sites

Active site322981Proton acceptor By similarity
Binding site322071ATP By similarity

Amino acid modifications

Modified residue2631Phosphoserine By similarity
Modified residue2651Phosphoserine By similarity
Modified residue2671Phosphothreonine By similarity
Modified residue40651Phosphoserine
Modified residue40681Phosphoserine
Modified residue69201Phosphoserine By similarity
Modified residue84901Phosphotyrosine
Modified residue91221Phosphoserine By similarity
Modified residue92031Phosphoserine
Modified residue92071Phosphothreonine
Modified residue115031Phosphoserine By similarity
Modified residue120071Phosphothreonine By similarity
Modified residue120091Phosphoserine By similarity
Modified residue120221Phosphoserine By similarity
Modified residue225251Phosphoserine
Modified residue225341Phosphoserine
Modified residue304431Phosphothreonine By similarity
Modified residue323411Phosphotyrosine Ref.28
Modified residue332451Phosphoserine By similarity
Modified residue332471Phosphoserine By similarity
Modified residue336021Phosphoserine By similarity
Modified residue336141Phosphoserine By similarity
Modified residue339381Phosphoserine
Modified residue339421Phosphoserine
Disulfide bond964 ↔ 1015 By similarity
Disulfide bond1724 ↔ 1777 By similarity
Disulfide bond2109 ↔ 2134 Ref.30
Disulfide bond2196 ↔ 2246 By similarity
Disulfide bond3259 ↔ 3311 By similarity
Disulfide bond4404 ↔ 4455 By similarity
Disulfide bond4499 ↔ 4550 By similarity
Disulfide bond4592 ↔ 4643 By similarity
Disulfide bond4686 ↔ 4737 By similarity
Disulfide bond4779 ↔ 4830 By similarity
Disulfide bond5061 ↔ 5112 By similarity
Disulfide bond5248 ↔ 5299 By similarity
Disulfide bond5623 ↔ 5674 By similarity
Disulfide bond5810 ↔ 5861 By similarity
Disulfide bond5903 ↔ 5954 By similarity
Disulfide bond6185 ↔ 6236 By similarity
Disulfide bond6372 ↔ 6423 By similarity
Disulfide bond6465 ↔ 6516 By similarity
Disulfide bond6748 ↔ 6799 By similarity
Disulfide bond7027 ↔ 7078 By similarity
Disulfide bond7123 ↔ 7174 By similarity
Disulfide bond7219 ↔ 7270 By similarity
Disulfide bond7313 ↔ 7364 By similarity
Disulfide bond7406 ↔ 7457 By similarity
Disulfide bond7689 ↔ 7740 By similarity
Disulfide bond7968 ↔ 8019 By similarity
Disulfide bond8064 ↔ 8115 By similarity
Disulfide bond8160 ↔ 8211 By similarity
Disulfide bond8254 ↔ 8305 By similarity
Disulfide bond8347 ↔ 8398 By similarity
Disulfide bond8630 ↔ 8681 By similarity
Disulfide bond8909 ↔ 8960 By similarity
Disulfide bond9005 ↔ 9056 By similarity
Disulfide bond9101 ↔ 9152 By similarity
Disulfide bond9294 ↔ 9345 By similarity
Disulfide bond9693 ↔ 9743 By similarity
Disulfide bond12067 ↔ 12117 By similarity
Disulfide bond12611 ↔ 12660 By similarity
Disulfide bond12966 ↔ 13016 By similarity
Disulfide bond13233 ↔ 13283 By similarity
Disulfide bond13322 ↔ 13372 By similarity
Disulfide bond13411 ↔ 13461 By similarity
Disulfide bond13771 ↔ 13821 By similarity
Disulfide bond31481 ↔ 31532 By similarity
Disulfide bond32516 ↔ 32568 By similarity
Disulfide bond33664 ↔ 33718 By similarity
Cross-link10718Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link10733Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link10740Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link29566Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link30146Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Natural variations

Alternative sequence555 – 64692Missing in isoform 2.
VSP_019138
Alternative sequence556 – 60146Missing in isoform 3, isoform 9 and isoform 10.
VSP_019139
Alternative sequence34341E → EGFSKFEENTSNSQWHVSLS VSFKKEPLGQKPSFIQPLSS LRVHNGETVRFHARVSGIPK PEIQWFHNQQLILPTKDVVF HFEESTGMALMLIVDAYSEH AGQYSCKAANSAGEATCAAT LTVTPKVQALDRQSSGKDVR ESAKSQAVADSSFTKEESKI SQKEIKSFQGSSYEYEVQVF ESVSQSSIHTAASVQDTQLC HTASLSQIAESTELSKECAK ESTGEAPKIFLHLQDVTVKC GDTAQFLCVLKDDSFIDVTW THEGAKIEESERLKQSQNGN IQFLTICNVQLVDQGLYSCI VHNDCGERTTSAVLSVEG in isoform 12.
VSP_045935
Alternative sequence34341E → EGFSKFEENTSNSQWHVSLS VSFKKEPLGQKPSFIQPLSS LRVHNGETVRFHARVSGIPK PEIQWFHNQQLILPTKDVVF HFEESTGMALMLIVDAYSEH AGQYSCKAANSAGEATCAAT LTVTPK in isoform 8 and isoform 10.
VSP_019140
Alternative sequence34341E → EVQALDRQSSGKDVRESAKS QAVADSSFTKEESKISQKEI KSFQGSSYEYEVQVFESVSQ SSIHTAASVQDTQLCHTASL SQIAESTELSKECAKESTGE APKIFLHLQDVTVKCGDTAQ FLCVLKDDSFIDVTWTHEGA KIEESERLKQSQNGNIQFLT ICNVQLVDQGLYSCIVHNDC GERTTSAVLSVEG in isoform 9.
VSP_042903
Alternative sequence3435 – 3645211APESI…EYTVV → VQALDRQSSGKDVRESTKSQ AVADSSFTKEESKISQKEIK SFQGSSYEYEVQVFESVSQS SIHTAASVQDTQLCHTASLS QIAESTELSKECAKESTGEA PKIFLHLQDVTVKCGDTAQF LCVLKDDSFIDVTWTHEGAK IEESERLKQSQNGNIQFLTI CNVQLVDQGLYSCIVHNDCG ERTTSAVLSVEGAPESILHE RIEQEIEMEMK in isoform 7.
VSP_019141
Alternative sequence3454 – 4380927Missing in isoform 4 and isoform 11.
VSP_019142
Alternative sequence3455 – 56042150FSSSF…IPPSF → LFSEGESEHSERDTRDAFSD SEDIDHKSMAAKRYASRISS TSSWPEYFKPSFTQKLTFKY VLEGEPVVFTCRLIACPTPE MTWFHNNRPIPTGLRRIIKA ESDLHHHSSSLEIKRVQDRD SGSYRLLAINSEGSAESTAS LLVIQKGQDEKYLEFLKRAE RTHENVEALVERGEDRIKVD LRFTGSPFNKKQDVEQKGMM RTIHFKTMSSAKKTDYMYDE EYLESKSDIRGWLNVGESFL DKETKVKLQRLREARKTLME KKKLSLLDTSSEISSRTLRS EASDKDILFSREDMKIRSMS DLAESYKVDHSAESIVQNPH ALSNQMDQNIESEELPTSFQ TIVDEEIFQTEIRMSQEALV KESLPKDHLYGEILVNENTQ ARGQLEEIMANTTIGESSTY ITNVCEKEEVYETPENVSQA ITPHASESFGTLVNVEESEE IASERIKKDDLRELQLSAST RIDEFKTEQKEENMRFFENS FRKRPQRCPPSFLQEIESQE VYEGDSCNFVCHFQGYPQPI VTWYNNDMPIPRNQNFIIHS LENYSILTLSSVHHQNEGSI TCVLFNQYGTVKTTSMLKVK AKQKHDVKAHKVPVFHDYLD EEEELALVFDQAKGAHPSMS QEGQTNLHLLKTNPPVPPSG DTELLSFPVEIQVTAATPIP EQDKESKEVFQTEELEPKAM PQDQVTQSPKHRFVFLSDIT NEPPKMLQEMPKHARCREGD SIILECLISGEPQPVVTWFQ NGVLLKQNQKFQFEEVNCSH QLYIKDVNSQDSGKYKCVAE NNSGAVESVSDLTVEPVTYR ENSQFENIGEIYGKYSRDQQ LQDQGESVRAHFYDYPAGPF TPWTNVKEYSVRDYFQSLET IEQIDQKEQVRCIPSREKIP RFVHGASRTIKISKPIRAEF IQCQAEGKERHVSEKSKLHQ AEGTVYPFVDDFSDVTIKKE IRNNFGKLGRSEKENVQECA QSDYLPNIHSERISDSYNTK DSSAIVYEESLGEEIHYPGK KVKHRIIEFEKLHVEKGVLE KRPTRTSIVNPPQKKIDDKA FSLKQRESRSSNLNANMYQA EKMSPNTESDSSNIAINLKL LSSQTHKEFDAQEREQQEKI SLIDKPAISKRAEHESPITF DLKQFHTQIKHTDVKFQELD SGQPEEAYFKIQHPADTENI VFDLKQMYSHIGDPALEFQG QETREQQEIHYKEKIPSPET LQPDTHNISKSVQNNVFASQ EISSSQELSNRTMVEKSSID ENSISLEKEVRHVQEQNLDI LKTDLSLKSFSEEIYSESCA LLPTSSADIEETDLSEKSCP LENGGRSSISHLKKAASEEK PLGVGEMEEECTLEPELAAF PKQDGGTQEYTDATLEDHRG DVQEADTLHRQLSLSQCFPL LMTEEQQNPGEQISTNIHAS GEEKCYEEVQVQNEASFSTL EGEMIETSFSQNIPKLDEAH TTEAAESETSLTQYLLAAGK REVPETKDTRDQAKLVQSES ITSMEVEEVTFNTVYEYYNQ KQESLGRPLSPESDISIGVG STTSEEISELDQFYTPPSSV EYFESPKSPDLYFNPSDITK QSSIHSGGETVERYSTPLGE VAERYSTPSEGEVGERYSTP PGETLERYSTPPGETLERYS TPPGETLERYSTPPGETLER YSTPPGETLERYSTPPGEAL ERYSIPTGGPNPTGTFKTYP SKIEREDGTPNEHFYTPTEE RGSAYEIWRSDSFGTPNEAI EPKDNEMPPSFIEPLTKRKV YENTTLGFIVEVEGLPVPGV KWYRNKSLLEPDERIKMERV GNVCSLEISNIQKGEGGEYM CHAVNIIGEAKSFANVDIMP QEERVVALPPPVTHQHVMEF DLEHTTSSRTPSPQEIVLEV ELSEKDVKEFEKQVKIVTVP EFTPDHKSMIVSLDVLPFNF VDPNMDSREGEDKELKIDLE VFEMPPRFIMPICDFKIPEN SDAVFKCSVIGIPTPEVKWY KEYMCIEPDNIKYVISEEKG SHTLKIRNVCLSDSATYRCR AVNCVGEAICRGFLTMGDSE IFAVIAKKSKVTLSSLMEEL VLKSNYTDSFFEFQVVEGPP RFIKGISDCYAPIGTAAYFQ CLVRGSPRPTVYWYKDGKLV QGRRFTVEESGTGFHNLFIT SLVKSDEGEYRCVATNKSGM AESFAALTLT in isoform 6.
VSP_019143
Alternative sequence3646 – 4380735Missing in isoform 7.
VSP_019144
Alternative sequence4474 – 118517378Missing in isoform 3, isoform 9 and isoform 10.
VSP_019145
Alternative sequence5605 – 3435028746Missing in isoform 6.
VSP_019146
Alternative sequence10382 – 10645264Missing in isoform 5.
VSP_019147
Alternative sequence10742 – 10931190Missing in isoform 5.
VSP_019148
Alternative sequence11015 – 11163149Missing in isoform 5.
VSP_019149
Alternative sequence111171I → VPKKPVPEKKVPVPAPKKVE PPPPPKVPEI in isoform 12.
VSP_045929
Alternative sequence111331E → EAPPAKVSVVPKKPEPEKKV PPPGLKKAV in isoform 12.
VSP_045930
Alternative sequence11223 – 11852630Missing in isoform 5.
VSP_019150
Alternative sequence114211K → KAPEVPKKIVPEEKVREAVL KKPEVPPAKVPGMPKKSVQE EKSPIVISEDTEMYIYEASE EAVLEEKVLVTQPQKTKPKL AKVPEPPKKVVPEDKIYVTI PKKRETPATKEPDTTRGIFP EVEPPEAIPEIPEHPPTEEF EVFKEVIPEGETPIVKRRKT PSPTVPESPREIVPVKETPM AAPLEIEIPPTKAPEAMKEV VPEMKIFEDVPEEPETPRMK TPEAPQEIIPAKTVPSKKRE PPSVKVPEALQEIVPEKKTL VVPLRKPEVLPDEVPEALRE VVPEKKVHPPQRAEVVPVKV HEAPKEIIPEKKVSVVPPKK PEVPPVKVPEASKEVIREEK VPLAPPKEPEVPPVKVPEPP KEVVPEKKAPVAPPKEPEVP PVKVPEAPKEVVPEKKVPVP PPKKPEVPPTKVPEVPKAAV PEKKLPEAIPPKPESPPPE in isoform 12.
VSP_045931
Alternative sequence114501P → PKVPEAPKEVVLEKKASVAV PKKPEAPRAKVPEAAQEVVP EKKIPKAPIKKPEAPAVTVP EVPQEATEKEIPVAPPKKPE APIVPVPEAQEVVPEKKVPK APPTKPEAPPATVPEVPQEI VPEKKTLVLPKKPEVPPVTV PEAPKEVVLEKKVPSAPPKK PEVPPV in isoform 12.
VSP_045932
Alternative sequence115071E → EVPEVLPPKEVVPEKKVPVP PAKKPEAPPPKVPEAPKEVV LEKKASVAVPKKPEAPRAKV PEAAQEVVPEKKIPKAPIKK PEAPAVTVPEVPQEAAEKEI PVAPPKKPEAPIVPVPEAQE VVPEKKVPKAPPTKPEAPPA TVPEVPQEIVPEKKTLVLPK KPEVPPVTVPEAPKEVVLEK KVPSTPPKKPEVPPVKVPEA PKEVVPEKKVPVPPPKKPEV PPTKVPEVPKAAVPEKKVPE AIPPKPESPPPEVPEVLPPK EVVPEKKVPVPPAKKPEAPP PKVPEAPKEVVLEKKVSVAV PKKPEAPRAKVPEAAQEVVP EKKIPKAPIKKPEAPAVTVP EVPQEAAEKEIPVAPPKKPE APIVPVPEAQEVVPEKKVPK APPTKPEAPPATVPEVPQEI VPEKKTLVLPKKPEVPPVTV PEAPKEVVLEKKVPLAPPKK PEVPPVKVPEAPKEVVPEKK VPVTPPKKPEVPPVKVPEAP IEVVPEKKMPLAPPKKPEVP PVKVPEAPKEVVPEKKVPSA PPKKPEVPPVK in isoform 12.
VSP_045933
Alternative sequence115071E → EVFEEPEESPSAPPKKPEVP PVR in isoform 4.
VSP_019151
Alternative sequence117901P → PKEPEMPKKVVPVKKVPTVK KPETPAAKVPEVPKKLVPVK KEPVPVTKKPEVLPEKVPKV PEKIIPEKEVSVPIPAEPEV PPAEVEETPEEIIYEEKASI TIGRKETPPVEEREIEKYIK PEEPEPEPQPEEIPV in isoform 13.
VSP_047142
Alternative sequence117931P → PEMPKKVVPVKKVPTVKKPE TPAAKVPEVPKKLVPVKKEP VPVTKKPEVLPEKVPKVPEK IIPEKEVSVPIPAEPEVPPA EVEETPEEIIYEEKASITIG RKETPPVEEREIEKYIKPEE PEPEPQPEEIPVKEP in isoform 12.
VSP_045934
Alternative sequence11985 – 12201217Missing in isoform 5.
VSP_019152
Natural variant541V → M in CMD1G; affects interaction with TCAP/telethonin. Ref.34
VAR_026685
Natural variant601D → Y. Ref.40
Corresponds to variant rs35683768 [ dbSNP | Ensembl ].
VAR_040078
Natural variant1151V → M in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040079
Natural variant2791R → W in HMERF; disrupts NBR1-binding. Ref.38
VAR_026634
Natural variant3281R → C. Ref.34 Ref.40
Corresponds to variant rs16866538 [ dbSNP | Ensembl ].
VAR_026686
Natural variant3601R → T. Ref.40
Corresponds to variant rs56128843 [ dbSNP | Ensembl ].
VAR_040080
Natural variant4981V → I. Ref.1 Ref.40
VAR_040081
Natural variant7401R → L in CMH9. Ref.32
Corresponds to variant rs28933405 [ dbSNP | Ensembl ].
VAR_026687
Natural variant7431A → V in CMD1G; affects interaction with TCAP/telethonin. Ref.34
VAR_026688
Natural variant7991T → M in a colorectal adenocarcinoma sample; somatic mutation. Ref.40
VAR_040082
Natural variant8111T → I. Ref.40
Corresponds to variant rs35813871 [ dbSNP | Ensembl ].
VAR_040083
Natural variant9221R → H. Ref.40
Corresponds to variant rs56046320 [ dbSNP | Ensembl ].
VAR_040084
Natural variant9371E → D in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040085
Natural variant9761W → R in CMD1G. Ref.35
VAR_026689
Natural variant10811A → T. Ref.40
Corresponds to variant rs55914517 [ dbSNP | Ensembl ].
VAR_040086
Natural variant11371G → R. Ref.40
VAR_040087
Natural variant12011K → E. Ref.1 Ref.40
Corresponds to variant rs10497520 [ dbSNP | Ensembl ].
VAR_040088
Natural variant12021V → A. Ref.40
VAR_040089
Natural variant12491S → L.
Corresponds to variant rs1552280 [ dbSNP | Ensembl ].
VAR_056081
Natural variant12951S → L. Ref.2 Ref.3 Ref.40
Corresponds to variant rs1552280 [ dbSNP | Ensembl ].
VAR_040090
Natural variant13451G → D. Ref.40
Corresponds to variant rs36021856 [ dbSNP | Ensembl ].
VAR_040091
Natural variant13471A → T in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040092
Natural variant13501R → H in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040093
Natural variant13531V → L. Ref.40
Corresponds to variant rs36062108 [ dbSNP | Ensembl ].
VAR_040094
Natural variant13931I → V. Ref.40
Corresponds to variant rs16866531 [ dbSNP | Ensembl ].
VAR_040095
Natural variant14161R → C. Ref.40
VAR_040096
Natural variant14411R → P. Ref.40
VAR_040097
Natural variant15441I → V. Ref.40
VAR_040098
Natural variant15721R → Q. Ref.2 Ref.3 Ref.40
Corresponds to variant rs12476289 [ dbSNP | Ensembl ].
VAR_040099
Natural variant16581R → G. Ref.40
Corresponds to variant rs56270960 [ dbSNP | Ensembl ].
VAR_040100
Natural variant16641R → Q in an ovarian mucinous carcinoma sample; somatic mutation. Ref.40
VAR_040101
Natural variant16921G → D in a lung squamous cell carcinoma sample; somatic mutation. Ref.40
VAR_040102
Natural variant17441P → L. Ref.40
VAR_040103
Natural variant17721S → G. Ref.40
VAR_040104
Natural variant19071T → I in a colorectal adenocarcinoma sample; somatic mutation. Ref.40
VAR_040105
Natural variant19981R → H. Ref.40
VAR_040106
Natural variant21071P → L in a colorectal adenocarcinoma sample; somatic mutation. Ref.40
VAR_040107
Natural variant21181I → T. Ref.40
Corresponds to variant rs56404770 [ dbSNP | Ensembl ].
VAR_040108
Natural variant21641A → T. Ref.40
Corresponds to variant rs56285559 [ dbSNP | Ensembl ].
VAR_040109
Natural variant22401D → Y. Ref.40
VAR_040110
Natural variant23921G → S. Ref.40
Corresponds to variant rs4894048 [ dbSNP | Ensembl ].
VAR_040111
Natural variant24321L → F in a lung neuroendocrine carcinoma sample; somatic mutation. Ref.40
VAR_040112
Natural variant26101M → I. Ref.2 Ref.3 Ref.40
Corresponds to variant rs56142888 [ dbSNP | Ensembl ].
VAR_040113
Natural variant27711I → M in a breast infiltrating ductal carcinoma sample; somatic mutation. Ref.40
VAR_040114
Natural variant28231V → F. Ref.40
Corresponds to variant rs33917087 [ dbSNP | Ensembl ].
VAR_040115
Natural variant28311S → N. Ref.2 Ref.3 Ref.40
Corresponds to variant rs2306636 [ dbSNP | Ensembl ].
VAR_040116
Natural variant29301V → I. Ref.40
Corresponds to variant rs56373393 [ dbSNP | Ensembl ].
VAR_040117
Natural variant30261N → I.
Corresponds to variant rs11900987 [ dbSNP | Ensembl ].
VAR_056082
Natural variant31541K → R. Ref.40
VAR_040118
Natural variant31911Q → E. Ref.40
VAR_040119
Natural variant32381P → L in a bladder carcinoma sample; somatic mutation. Ref.40
VAR_040120
Natural variant32501V → G. Ref.40
VAR_040121
Natural variant32611V → M. Ref.1 Ref.40
VAR_040122
Natural variant33671R → Q. Ref.40
VAR_040123
Natural variant34191S → N. Ref.1
Corresponds to variant rs2291310 [ dbSNP | Ensembl ].
VAR_056083
Natural variant34821E → K in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040124
Natural variant34911P → S. Ref.1 Ref.2 Ref.3
VAR_040125
Natural variant35701E → K in a breast pleomorphic lobular carcinoma sample; somatic mutation. Ref.40
VAR_040126
Natural variant35901L → V. Ref.40
VAR_040127
Natural variant36371P → S.
Corresponds to variant rs2627037 [ dbSNP | Ensembl ].
VAR_056084
Natural variant37621I → V. Ref.40
VAR_040128
Natural variant37991S → Y in CMD1G. Ref.34
VAR_026690
Natural variant38771I → F. Ref.40
VAR_040129
Natural variant39651I → L. Ref.40
VAR_040130
Natural variant40841R → Q. Ref.34
VAR_026691
Natural variant42151T → P. Ref.2 Ref.3 Ref.8 Ref.34 Ref.40
VAR_026635
Natural variant42381G → W. Ref.40
VAR_040131
Natural variant42831L → F. Ref.2 Ref.3 Ref.8 Ref.40
VAR_026636
Natural variant42911I → T in a colorectal adenocarcinoma sample; somatic mutation. Ref.40
VAR_040132
Natural variant43031G → D. Ref.40
VAR_040133
Natural variant44271D → E. Ref.40
VAR_040134
Natural variant44651S → N in CMD1G. Ref.34
VAR_026692
Natural variant82881A → V.
Corresponds to variant rs16866412 [ dbSNP | Ensembl ].
VAR_056085
Natural variant84741I → T.
Corresponds to variant rs4893852 [ dbSNP | Ensembl ].
VAR_056086
Natural variant123101G → E. Ref.40
VAR_040135
Natural variant123831H → R. Ref.2
VAR_040136
Natural variant124691V → A. Ref.40
VAR_040137
Natural variant126421R → C in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040138
Natural variant126571E → K in a Wilms tumor; somatic mutation. Ref.40
VAR_040139
Natural variant126791K → E. Ref.1 Ref.40
VAR_040140
Natural variant127201S → F in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040141
Natural variant127981R → C. Ref.40
VAR_040142
Natural variant130491E → G. Ref.40
VAR_040143
Natural variant130831E → K in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040144
Natural variant130961R → L. Ref.40
VAR_040145
Natural variant130991Q → R in a lung small cell carcinoma sample; somatic mutation. Ref.40
VAR_040146
Natural variant132971V → A. Ref.40
VAR_040147
Natural variant133991I → M. Ref.40
VAR_040148
Natural variant134181A → T. Ref.40
VAR_040149
Natural variant134281E → V. Ref.40
VAR_040150
Natural variant134301I → T. Ref.40
VAR_040151
Natural variant134341R → K in a breast pleomorphic lobular carcinoma sample; somatic mutation. Ref.40
VAR_040152
Natural variant134691D → N. Ref.40
VAR_040153
Natural variant134951K → N. Ref.40
VAR_040154
Natural variant137851N → S in a breast pleomorphic lobular carcinoma sample; somatic mutation. Ref.40
VAR_040155
Natural variant138701Q → H in a lung small cell carcinoma sample; somatic mutation. Ref.40
VAR_040156
Natural variant141091V → I. Ref.40
VAR_040157
Natural variant141311R → Q. Ref.40
VAR_040158
Natural variant142081P → T. Ref.40
VAR_040159
Natural variant147281L → V in a lung adenocarcinoma sample; somatic mutation. Ref.40
VAR_040160
Natural variant149991S → T. Ref.40
VAR_040161
Natural variant150211N → T. Ref.40
VAR_040162
Natural variant155201A → V. Ref.40
VAR_040163
Natural variant155551R → I in a colorectal adenocarcinoma sample; somatic mutation. Ref.40
VAR_040164
Natural variant156201R → Q. Ref.40
VAR_040165
Natural variant156291S → I. Ref.40
VAR_040166
Natural variant156351Y → C in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040167
Natural variant157001R → Q. Ref.40
VAR_040168
Natural variant157051L → P. Ref.40
VAR_040169
Natural variant158371I → M. Ref.40
VAR_040170
Natural variant160461G → V. Ref.41
VAR_069432
Natural variant160581R → H. Ref.40
VAR_040171
Natural variant160671K → I. Ref.40
VAR_040172
Natural variant160901I → T. Ref.40
VAR_040173
Natural variant161951R → H in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040174
Natural variant164091R → C. Ref.40
VAR_040175
Natural variant164241R → P. Ref.40
VAR_040176
Natural variant165751V → M.
Corresponds to variant rs3813243 [ dbSNP | Ensembl ].
VAR_056087
Natural variant166291I → M. Ref.40
VAR_040177
Natural variant168771K → R. Ref.40
VAR_040178
Natural variant170601N → D. Ref.40
VAR_040179
Natural variant176371I → V. Ref.40
VAR_040180
Natural variant178381R → H. Ref.40
VAR_040181
Natural variant178661D → N. Ref.40
VAR_040182
Natural variant179061G → E in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040183
Natural variant180941E → A. Ref.40
VAR_040184
Natural variant181091G → S. Ref.40
VAR_040185
Natural variant181641R → T in an ovarian serous carcinoma sample; somatic mutation. Ref.40
VAR_040186
Natural variant182211P → L. Ref.40
VAR_040187
Natural variant182221A → T. Ref.40
VAR_040188
Natural variant187261R → Q. Ref.40
VAR_040189
Natural variant188351V → A in a breast infiltrating ductal carcinoma sample; somatic mutation. Ref.40
VAR_040190
Natural variant188811R → K in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040191
Natural variant189391N → S. Ref.40
VAR_040192
Natural variant190001R → Q. Ref.40
VAR_040193
Natural variant190601L → Q in a lung large cell carcinoma sample; somatic mutation. Ref.40
VAR_040194
Natural variant190911R → K in a lung large cell carcinoma sample; somatic mutation. Ref.40
VAR_040195
Natural variant192241P → S in a colorectal adenocarcinoma sample; somatic mutation. Ref.40
VAR_040196
Natural variant193671T → I. Ref.40
VAR_040197
Natural variant193921E → K in a lung neuroendocrine carcinoma sample; somatic mutation. Ref.40
VAR_040198
Natural variant194801A → S in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040199
Natural variant194951D → G. Ref.40
VAR_040200
Natural variant196651R → H. Ref.40
VAR_040201
Natural variant197621T → I. Ref.1 Ref.40
VAR_040202
Natural variant199471G → R. Ref.40
VAR_040203
Natural variant199561V → M. Ref.40
VAR_040204
Natural variant199921R → Q. Ref.40
VAR_040205
Natural variant200571R → C. Ref.40
VAR_040206
Natural variant200751S → L. Ref.40
VAR_040207
Natural variant201791T → K. Ref.40
VAR_040208
Natural variant201981A → T. Ref.40
VAR_040209
Natural variant201981A → V. Ref.40
VAR_040210
Natural variant203311R → H. Ref.40
VAR_040211
Natural variant203591R → K.
Corresponds to variant rs9808036 [ dbSNP | Ensembl ].
VAR_056088
Natural variant204081A → T in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040212
Natural variant205641R → K. Ref.40
VAR_040213
Natural variant207181V → I. Ref.1 Ref.40
VAR_040214
Natural variant207261S → P. Ref.40
VAR_040215
Natural variant208921T → N. Ref.40
VAR_040216
Natural variant208941S → R. Ref.40
VAR_040217
Natural variant211251D → E. Ref.40
VAR_040218
Natural variant214031P → S. Ref.40
VAR_040219
Natural variant217301R → C. Ref.40
VAR_040220
Natural variant217471R → Q. Ref.40
VAR_040221
Natural variant218511C → R in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040222
Natural variant219251G → R. Ref.40
VAR_040223
Natural variant219951R → H. Ref.40
VAR_040224
Natural variant220451A → V. Ref.40
VAR_040225
Natural variant221491R → H. Ref.40
VAR_040226
Natural variant221601V → I. Ref.40
VAR_040227
Natural variant222611I → T. Ref.40
VAR_040228
Natural variant223061K → N. Ref.40
VAR_040229
Natural variant223571R → H. Ref.40
VAR_040230
Natural variant224081L → P. Ref.40
VAR_040231
Natural variant225371Q → H in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040232
Natural variant225841P → L. Ref.40
VAR_040233
Natural variant226461L → P in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040234
Natural variant226701T → A. Ref.40
VAR_040235
Natural variant227701A → D. Ref.40
VAR_040236
Natural variant228011A → T in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040237
Natural variant228231R → W in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040238
Natural variant229681E → Q. Ref.40
VAR_040239
Natural variant230741P → L. Ref.40
VAR_040240
Natural variant230791L → F in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040241
Natural variant232821D → N in a breast infiltrating ductal carcinoma sample; somatic mutation. Ref.40
VAR_040242
Natural variant233031H → Y in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040243
Natural variant233061R → C. Ref.40
VAR_040244
Natural variant235151A → S in a lung squamous cell carcinoma sample; somatic mutation. Ref.40
VAR_040245
Natural variant235511E → Q in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040246
Natural variant238071S → N. Ref.1 Ref.40
VAR_040247
Natural variant238721D → N in an ovarian serous carcinoma sample; somatic mutation. Ref.40
VAR_040248
Natural variant238911V → A. Ref.40
VAR_040249
Natural variant239331Y → H. Ref.40
VAR_040250
Natural variant239391T → M. Ref.40
VAR_040251
Natural variant239521F → L in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040252
Natural variant240981A → G. Ref.40
VAR_040253
Natural variant240981A → T.
Corresponds to variant rs4894028 [ dbSNP | Ensembl ].
VAR_056089
Natural variant241191N → S. Ref.40
VAR_040254
Natural variant241331V → I. Ref.40
VAR_040255
Natural variant241591V → A in a head and neck squamous cell carcinoma sample; somatic mutation. Ref.40
VAR_040256
Natural variant242391T → A. Ref.40
VAR_040257
Natural variant242651E → K. Ref.40
VAR_040258
Natural variant245841I → T. Ref.40
VAR_040259
Natural variant247811I → T. Ref.40
VAR_040260
Natural variant247991R → H. Ref.40
VAR_040261
Natural variant249541D → H. Ref.40
VAR_040262
Natural variant249801T → M. Ref.1 Ref.40
VAR_040263
Natural variant256591R → H. Ref.40
VAR_040264
Natural variant256791A → T. Ref.40
VAR_040265
Natural variant257201P → A. Ref.40
VAR_040266
Natural variant258211T → K. Ref.40
VAR_040267
Natural variant258591E → K in a metastatic melanoma sample; somatic mutation. Ref.40
VAR_040268
Natural variant258791N → K. Ref.40
VAR_040269
Natural variant259231A → V. Ref.40
VAR_040270
Natural variant260451V → I. Ref.40
VAR_040271
Natural variant260591K → E in a lung small cell carcinoma sample; somatic mutation. Ref.40
VAR_040272
Natural variant261341I → V. Ref.40
VAR_040273
Natural variant264771R → C. Ref.40
VAR_040274
Natural variant268431D → Y. Ref.40
VAR_040275
Natural variant273461K → R. Ref.40
VAR_040276
Natural variant276521R → C. Ref.40
VAR_040277
Natural variant277281G → V. Ref.40
VAR_040278
Natural variant277541F → L. Ref.40
VAR_040279
Natural variant277551I → T. Ref.1 Ref.40
VAR_040280
Natural variant279291I → V. Ref.40
VAR_040281
Natural variant281321I → L. Ref.40
VAR_040282
Natural variant281681R → Q. Ref.40
VAR_040283
Natural variant285381R → H. Ref.40
VAR_040284
Natural variant285721I → T. Ref.40
VAR_040285
Natural variant289481A → T. Ref.40
VAR_040286
Natural variant289861I → V. Ref.40
VAR_040287
Natural variant289931G → E. Ref.40
VAR_040288
Natural variant289981L → V. Ref.40
VAR_040289
Natural variant290701V → M. Ref.40
VAR_040290
Natural variant290901I → V. Ref.40
VAR_040291
Natural variant294191R → C. Ref.40
VAR_040292
Natural variant294791L → P. Ref.40
VAR_040293
Natural variant298801S → L in a colorectal adenocarcinoma sample; somatic mutation. Ref.40
VAR_040294
Natural variant299761D → E. Ref.40
VAR_040295
Natural variant300421S → G. Ref.40
VAR_040296
Natural variant301071R → C. Ref.40
VAR_040297
Natural variant301251S → F. Ref.40
VAR_040298
Natural variant302111L → P. Ref.40
VAR_040299
Natural variant304121I → T. Ref.40
VAR_040300
Natural variant306171T → S in a renal chromophobe cancer sample; somatic mutation. Ref.40
VAR_040301
Natural variant306741T → I. Ref.40
VAR_040302
Natural variant308091V → I in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040303
Natural variant308181F → I. Ref.40
VAR_040304
Natural variant308251E → K. Ref.40
VAR_040305
Natural variant308561I → T. Ref.40
VAR_040306
Natural variant308871G → D. Ref.40
VAR_040307
Natural variant308871G → S. Ref.40
VAR_040308
Natural variant308971R → H. Ref.40
VAR_040309
Natural variant309071R → H. Ref.40
VAR_040310
Natural variant309461R → H. Ref.40
VAR_040311
Natural variant310811I → F. Ref.40
VAR_040312
Natural variant311071R → C. Ref.40
VAR_040313
Natural variant311241A → G. Ref.40
VAR_040314
Natural variant311561N → S. Ref.40
VAR_040315
Natural variant312461P → T. Ref.40
VAR_040316
Natural variant313301R → H. Ref.40
VAR_040317
Natural variant316901C → R. Ref.40
VAR_040318
Natural variant317241R → Q. Ref.40
VAR_040319
Natural variant317251V → I. Ref.40
VAR_040320
Natural variant317321G → S. Ref.40
VAR_040321
Natural variant318861V → I. Ref.40
VAR_040322
Natural variant320971R → C. Ref.40
VAR_040323
Natural variant321711T → N in a lung large cell carcinoma sample; somatic mutation. Ref.40
VAR_040324
Natural variant322481V → I. Ref.40
VAR_040325
Natural variant322811Q → H. Ref.40
VAR_040326
Natural variant323231R → H. Ref.40
VAR_040327
Natural variant324111R → W in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040328
Natural variant325581I → V. Ref.40
VAR_040329
Natural variant326101M → V. Ref.40
VAR_040330
Natural variant326371G → V. Ref.40
VAR_040331
Natural variant327421E → Q. Ref.41
VAR_069433
Natural variant329221V → A. Ref.40
VAR_040332
Natural variant329431L → R in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040333
Natural variant329531R → H. Ref.40
VAR_040334
Natural variant329961R → Q in CMD1G. Ref.37
VAR_026693
Natural variant332131V → L. Ref.40
VAR_040335
Natural variant332421R → C in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040336
Natural variant333871T → M. Ref.40
VAR_040337
Natural variant334191E → D. Ref.40
VAR_040338
Natural variant335361V → M. Ref.40
VAR_040339
Natural variant335681K → Q. Ref.40
VAR_040340
Natural variant336161E → K. Ref.40
VAR_040341
Natural variant336201P → L. Ref.40
VAR_040342
Natural variant338861E → V. Ref.40
VAR_040343
Natural variant338991I → T. Ref.40
VAR_040344
Natural variant339041L → P in a gastric adenocarcinoma sample; somatic mutation. Ref.40
VAR_040345
Natural variant339551T → I. Ref.40
VAR_040346
Natural variant341151V → A. Ref.40
VAR_040347
Natural variant343061I → N in TMD. Ref.36
VAR_026694
Natural variant343151L → P in TMD. Ref.33
VAR_026695

Experimental info

Mutagenesis322071K → A: Disrupts catalytic activity. Ref.28
Mutagenesis323411Y → E: No phosphorylation on tyrosine. Ref.28
Sequence conflict1321T → N in CAA62188. Ref.1
Sequence conflict2551P → H in CAD12455. Ref.3
Sequence conflict2551P → H in CAD12456. Ref.3
Sequence conflict2551P → H in CAD12457. Ref.3
Sequence conflict1472 – 14743QTA → ANC in CAA62188. Ref.1
Sequence conflict17301G → S in CAA62188. Ref.1
Sequence conflict39191P → L in CAA62188. Ref.1
Sequence conflict45251R → K in CAD12456. Ref.3
Sequence conflict66191R → E in CAA62189. Ref.1
Sequence conflict66191R → E in CAD12456. Ref.3
Sequence conflict71451D → H in CAA62189. Ref.1
Sequence conflict74411S → N in CAA62189. Ref.1
Sequence conflict80381A → E in CAD12456. Ref.3
Sequence conflict82251Q → H in CAD12456. Ref.3
Sequence conflict88501A → P in CAA62189. Ref.1
Sequence conflict96931C → V in CAA62189. Ref.1
Sequence conflict98921I → V in CAA62189. Ref.1
Sequence conflict102051I → V in CAD12456. Ref.3
Sequence conflict102051I → V in AAP80791. Ref.9
Sequence conflict103051G → R in CAD12456. Ref.3
Sequence conflict105661R → K in CAA62189. Ref.1
Sequence conflict107791R → H in CAA62189. Ref.1
Sequence conflict114241E → D in CAD12456. Ref.3
Sequence conflict115111A → V in CAA62189. Ref.1
Sequence conflict116261K → N in CAA62189. Ref.1
Sequence conflict118381K → N in CAA62189. Ref.1
Sequence conflict129941A → T in CAA62188. Ref.1
Sequence conflict13795 – 137973YKF → IQI Ref.11
Sequence conflict145901A → T in CAA62188. Ref.1
Sequence conflict147921V → A in CAA62188. Ref.1
Sequence conflict159741E → K in CAA62188. Ref.1
Sequence conflict16234 – 162352TK → QR in CAA62188. Ref.1
Sequence conflict172381R → H in CAA62188. Ref.1
Sequence conflict174231R → S in CAD12456. Ref.3
Sequence conflict197341V → A in CAA62188. Ref.1
Sequence conflict205171G → A in CAA62188. Ref.1
Sequence conflict205171G → A in CAD12455. Ref.3
Sequence conflict206221L → H in CAA62188. Ref.1
Sequence conflict207751A → P in CAA62188. Ref.1
Sequence conflict216251Y → I in CAA45939. Ref.13
Sequence conflict21795 – 218006PGPVLN → ARPSPQ in CAA45939. Ref.13
Sequence conflict221761C → W in CAA62188. Ref.1
Sequence conflict228161A → D in CAA62188. Ref.1
Sequence conflict228371T → A in CAA62188. Ref.1
Sequence conflict241761I → M in CAA62188. Ref.1
Sequence conflict241761I → M in CAA45940. Ref.13
Sequence conflict241811S → F in CAA45940. Ref.13
Sequence conflict257311P → S in CAA62188. Ref.1
Sequence conflict265731M → V in CAA62188. Ref.1
Sequence conflict26846 – 268483IVE → HRK in CAA62188. Ref.1
Sequence conflict278791G → A in CAA62188. Ref.1
Sequence conflict289361D → N in CAA62188. Ref.1
Sequence conflict292221A → T in CAA62188. Ref.1
Sequence conflict295181F → L in CAA62188. Ref.1
Sequence conflict297011T → P in CAA45938. Ref.14
Sequence conflict297011T → P in CAA49245. Ref.14
Sequence conflict298731E → G in CAA45938. Ref.14
Sequence conflict298731E → G in CAA49245. Ref.14
Sequence conflict298781T → Q in CAA45938. Ref.14
Sequence conflict298781T → Q in CAA49245. Ref.14
Sequence conflict302091K → E in CAA62188. Ref.1
Sequence conflict302091K → E in CAA45938. Ref.14
Sequence conflict302091K → E in CAA49245. Ref.14
Sequence conflict302561A → R in CAA62188. Ref.1
Sequence conflict302561A → R in CAA45938. Ref.14
Sequence conflict302561A → R in CAA49245. Ref.14
Sequence conflict304961V → I in CAA62188. Ref.1
Sequence conflict304961V → I in CAA45938. Ref.14
Sequence conflict304961V → I in CAA49245. Ref.14
Sequence conflict305341Y → H in CAA62188. Ref.1
Sequence conflict305341Y → H in CAA45938. Ref.14
Sequence conflict305341Y → H in CAA49245. Ref.14
Sequence conflict307481S → L in CAA45938. Ref.14
Sequence conflict307481S → L in CAA49245. Ref.14
Sequence conflict313031W → V in CAA62188. Ref.1
Sequence conflict313031W → V in CAA45938. Ref.14
Sequence conflict313031W → V in CAA49245. Ref.14
Sequence conflict320601V → A in CAA62188. Ref.1
Sequence conflict320601V → A in CAA45938. Ref.14
Sequence conflict320601V → A in CAA49245. Ref.14
Sequence conflict330841D → N in CAA62188. Ref.1
Sequence conflict330841D → N in CAA49245. Ref.14
Sequence conflict331201R → W in CAD28458. Ref.15
Sequence conflict333821A → R in CAA49245. Ref.14
Sequence conflict334241S → P in CAA62188. Ref.1
Sequence conflict334241S → P in CAA49245. Ref.14
Sequence conflict335261Q → R in CAA49245. Ref.14
Sequence conflict336331T → I in CAA62188. Ref.1
Sequence conflict336331T → I in CAA49245. Ref.14
Sequence conflict337161Y → V in CAD28458. Ref.15
Sequence conflict339951V → A in CAD28458. Ref.15
Sequence conflict340711N → G in AAI07798. Ref.5
Sequence conflict340821C → R in CAA49245. Ref.14
Sequence conflict342531G → R in AAI07798. Ref.5

Secondary structure

...........................................................................................................................................................................................