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Q9NXB0

- MKS1_HUMAN

UniProt

Q9NXB0 - MKS1_HUMAN

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Protein

Meckel syndrome type 1 protein

Gene

MKS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.2 Publications

GO - Biological processi

  1. branching morphogenesis of an epithelial tube Source: Ensembl
  2. cilium assembly Source: UniProtKB
  3. cilium morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiREACT_267634. Hedgehog 'off' state.

Names & Taxonomyi

Protein namesi
Recommended name:
Meckel syndrome type 1 protein
Gene namesi
Name:MKS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:7121. MKS1.

Subcellular locationi

Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome
Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.By similarity

GO - Cellular componenti

  1. centriole Source: Ensembl
  2. centrosome Source: UniProtKB
  3. ciliary basal body Source: UniProtKB
  4. cytoplasm Source: UniProtKB
  5. membrane Source: Ensembl
  6. TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Meckel syndrome 1 (MKS1) [MIM:249000]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti166 – 1661R → W in MKS1; unknown pathological significance. 1 Publication
VAR_062288
Bardet-Biedl syndrome 13 (BBS13) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti371 – 3711Missing in BBS13. 1 Publication
VAR_062290
Natural varianti492 – 4921C → W in BBS13. 1 Publication
VAR_062292

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Meckel syndrome, Mental retardation, Obesity

Organism-specific databases

MIMi209900. phenotype.
249000. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
564. Meckel syndrome.
PharmGKBiPA30840.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 559559Meckel syndrome type 1 proteinPRO_0000225686Add
BLAST

Proteomic databases

MaxQBiQ9NXB0.
PaxDbiQ9NXB0.
PRIDEiQ9NXB0.

PTM databases

PhosphoSiteiQ9NXB0.

Expressioni

Gene expression databases

BgeeiQ9NXB0.
CleanExiHS_MKS1.
ExpressionAtlasiQ9NXB0. baseline.
GenevestigatoriQ9NXB0.

Organism-specific databases

HPAiHPA021372.
HPA021812.

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with TCTN3 and AHI1 (By similarity). Interacts with FLNA.By similarity2 Publications

Protein-protein interaction databases

BioGridi120249. 8 interactions.
IntActiQ9NXB0. 2 interactions.
MINTiMINT-1415211.
STRINGi9606.ENSP00000376827.

Structurei

3D structure databases

ProteinModelPortaliQ9NXB0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini311 – 439129B9PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 B9 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG306467.
GeneTreeiENSGT00510000047471.
HOGENOMiHOG000251592.
HOVERGENiHBG079759.
InParanoidiQ9NXB0.
OMAiCATKSLG.
OrthoDBiEOG73FQMN.
PhylomeDBiQ9NXB0.
TreeFamiTF323812.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NXB0-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD
60 70 80 90 100
LIDLATFRPQ PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ
110 120 130 140 150
SPLDYQYRQE ILKLENSGGK KNRRIFTYTD SDRYTNLEEH CQRMTTAASE
160 170 180 190 200
VPSFLVERMA NVRRRRQDRR GMEGGILKSR IVTWEPSEEF VRNNHVINTP
210 220 230 240 250
LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP DFTGLKGPYR
260 270 280 290 300
IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG
310 320 330 340 350
TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ
360 370 380 390 400
LSGVTQTCTT KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE
410 420 430 440 450
VLSLDFWQRY RVEGYGAVVL PATPGSHTLT VSTWRPVELG TVAELRRFFI
460 470 480 490 500
GGSLELEDLS YVRIPGSFKG ERLSRFGLRT ETTGTVTFRL HCLQQSRAFM
510 520 530 540 550
ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ EARESLPQDL

VSPSGTLVS
Length:559
Mass (Da):64,528
Last modified:March 7, 2006 - v2
Checksum:i3E4EBFDAFA8FB39D
GO
Isoform 2 (identifier: Q9NXB0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     471-559: ERLSRFGLRT...LVSPSGTLVS → LSSSKTKEGR...RLRYELFLSK

Note: No experimental confirmation available.

Show »
Length:520
Mass (Da):59,869
Checksum:i505F4279EB7A9E35
GO
Isoform 3 (identifier: Q9NXB0-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MAETVWSTDTGEAVYRSRDPVRNLRL → MAVPVSSFAQRTRSRF

Note: No experimental confirmation available.

Show »
Length:549
Mass (Da):63,344
Checksum:i6760801F0209F8A5
GO

Sequence cautioni

The sequence AAH10061.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91105.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391L → F.
Corresponds to variant rs11653070 [ dbSNP | Ensembl ].
VAR_060161
Natural varianti123 – 1231R → Q.1 Publication
VAR_062287
Natural varianti166 – 1661R → W in MKS1; unknown pathological significance. 1 Publication
VAR_062288
Natural varianti286 – 2861D → G.1 Publication
Corresponds to variant rs151023718 [ dbSNP | Ensembl ].
VAR_062289
Natural varianti371 – 3711Missing in BBS13. 1 Publication
VAR_062290
Natural varianti450 – 4501I → T.1 Publication
VAR_062291
Natural varianti492 – 4921C → W in BBS13. 1 Publication
VAR_062292

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2626MAETV…RNLRL → MAVPVSSFAQRTRSRF in isoform 3. 1 PublicationVSP_046063Add
BLAST
Alternative sequencei471 – 55989ERLSR…GTLVS → LSSSKTKEGRKVDGERVLNP QPVSLSLFPGKPHSTAWGLL RLRYELFLSK in isoform 2. 1 PublicationVSP_017414Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ185029 mRNA. Translation: AAZ94714.1.
AK000352 mRNA. Translation: BAA91105.1. Different initiation.
AK310815 mRNA. No translation available.
AC005962 Genomic DNA. No translation available.
BC010061 mRNA. Translation: AAH10061.1. Different initiation.
CR457229 mRNA. Translation: CAG33510.1.
CCDSiCCDS11603.2. [Q9NXB0-1]
CCDS54148.1. [Q9NXB0-3]
RefSeqiNP_001159399.1. NM_001165927.1. [Q9NXB0-3]
NP_060247.2. NM_017777.3. [Q9NXB0-1]
UniGeneiHs.408843.

Genome annotation databases

EnsembliENST00000393119; ENSP00000376827; ENSG00000011143. [Q9NXB0-1]
ENST00000537529; ENSP00000442096; ENSG00000011143. [Q9NXB0-3]
GeneIDi54903.
KEGGihsa:54903.
UCSCiuc002ivr.2. human. [Q9NXB0-1]

Polymorphism databases

DMDMi92087008.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ185029 mRNA. Translation: AAZ94714.1 .
AK000352 mRNA. Translation: BAA91105.1 . Different initiation.
AK310815 mRNA. No translation available.
AC005962 Genomic DNA. No translation available.
BC010061 mRNA. Translation: AAH10061.1 . Different initiation.
CR457229 mRNA. Translation: CAG33510.1 .
CCDSi CCDS11603.2. [Q9NXB0-1 ]
CCDS54148.1. [Q9NXB0-3 ]
RefSeqi NP_001159399.1. NM_001165927.1. [Q9NXB0-3 ]
NP_060247.2. NM_017777.3. [Q9NXB0-1 ]
UniGenei Hs.408843.

3D structure databases

ProteinModelPortali Q9NXB0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120249. 8 interactions.
IntActi Q9NXB0. 2 interactions.
MINTi MINT-1415211.
STRINGi 9606.ENSP00000376827.

PTM databases

PhosphoSitei Q9NXB0.

Polymorphism databases

DMDMi 92087008.

Proteomic databases

MaxQBi Q9NXB0.
PaxDbi Q9NXB0.
PRIDEi Q9NXB0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000393119 ; ENSP00000376827 ; ENSG00000011143 . [Q9NXB0-1 ]
ENST00000537529 ; ENSP00000442096 ; ENSG00000011143 . [Q9NXB0-3 ]
GeneIDi 54903.
KEGGi hsa:54903.
UCSCi uc002ivr.2. human. [Q9NXB0-1 ]

Organism-specific databases

CTDi 54903.
GeneCardsi GC17M056282.
GeneReviewsi MKS1.
HGNCi HGNC:7121. MKS1.
HPAi HPA021372.
HPA021812.
MIMi 209900. phenotype.
249000. phenotype.
609883. gene.
neXtProti NX_Q9NXB0.
Orphaneti 110. Bardet-Biedl syndrome.
475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
564. Meckel syndrome.
PharmGKBi PA30840.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG306467.
GeneTreei ENSGT00510000047471.
HOGENOMi HOG000251592.
HOVERGENi HBG079759.
InParanoidi Q9NXB0.
OMAi CATKSLG.
OrthoDBi EOG73FQMN.
PhylomeDBi Q9NXB0.
TreeFami TF323812.

Enzyme and pathway databases

Reactomei REACT_267634. Hedgehog 'off' state.

Miscellaneous databases

GeneWikii MKS1.
GenomeRNAii 54903.
NextBioi 57936.
PROi Q9NXB0.
SOURCEi Search...

Gene expression databases

Bgeei Q9NXB0.
CleanExi HS_MKS1.
ExpressionAtlasi Q9NXB0. baseline.
Genevestigatori Q9NXB0.

Family and domain databases

InterProi IPR010796. B9_dom.
[Graphical view ]
Pfami PF07162. B9-C2. 1 hit.
[Graphical view ]
PROSITEi PS51381. B9. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome."
    Kyttaelae M., Tallila J., Salonen R., Kopra O., Kohlschmidt N., Paavola-Sakki P., Peltonen L., Kestilae M.
    Nat. Genet. 38:155-157(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MKS1.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 86-559 (ISOFORM 1).
    Tissue: Hepatoma and Trachea.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Ovary.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 144-559 (ISOFORM 1).
  6. "The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation."
    Dawe H.R., Smith U.M., Cullinane A.R., Gerrelli D., Cox P., Badano J.L., Blair-Reid S., Sriram N., Katsanis N., Attie-Bitach T., Afford S.C., Copp A.J., Kelly D.A., Gull K., Johnson C.A.
    Hum. Mol. Genet. 16:173-186(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, FUNCTION, INTERACTION WITH TMEM67.
  7. "Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3."
    Tammachote R., Hommerding C.J., Sinders R.M., Miller C.A., Czarnecki P.G., Leightner A.C., Salisbury J.L., Ward C.J., Torres V.E., Gattone V.H. II, Harris P.C.
    Hum. Mol. Genet. 18:3311-3323(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins."
    Bialas N.J., Inglis P.N., Li C., Robinson J.F., Parker J.D., Healey M.P., Davis E.E., Inglis C.D., Toivonen T., Cottell D.C., Blacque O.E., Quarmby L.M., Katsanis N., Leroux M.R.
    J. Cell Sci. 122:611-624(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  9. Cited for: INTERACTION WITH FLNA.
  10. "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."
    Leitch C.C., Zaghloul N.A., Davis E.E., Stoetzel C., Diaz-Font A., Rix S., Alfadhel M., Lewis R.A., Eyaid W., Banin E., Dollfus H., Beales P.L., Badano J.L., Katsanis N.
    Nat. Genet. 40:443-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BBS13 PHE-371 DEL AND TRP-492, VARIANTS GLN-123; GLY-286 AND THR-450.
  11. "Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?"
    Tallila J., Salonen R., Kohlschmidt N., Peltonen L., Kestilae M.
    Hum. Mutat. 30:E813-E830(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MKS1 TRP-166.

Entry informationi

Entry nameiMKS1_HUMAN
AccessioniPrimary (citable) accession number: Q9NXB0
Secondary accession number(s): B7WNX4
, F5H885, Q284T0, Q96G13
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 7, 2006
Last modified: November 26, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3