UniProtKB - Q13683 (ITA7_HUMAN)
Integrin alpha-7
ITGA7
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 372 – 380 | Sequence analysis | 9 | |
Calcium bindingi | 434 – 442 | Sequence analysis | 9 | |
Calcium bindingi | 492 – 500 | Sequence analysis | 9 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- cell-matrix adhesion Source: ProtInc
- endodermal cell differentiation Source: UniProtKB
- extracellular matrix organization Source: Reactome
- heterotypic cell-cell adhesion Source: UniProtKB
- integrin-mediated signaling pathway Source: UniProtKB-KW
- muscle organ development Source: ProtInc
- regulation of cell shape Source: UniProtKB-KW
Keywordsi
Molecular function | Integrin, Receptor |
Biological process | Cell adhesion, Cell shape |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q13683 |
Reactomei | R-HSA-216083, Integrin cell surface interactions R-HSA-3000157, Laminin interactions R-HSA-3000178, ECM proteoglycans |
SignaLinki | Q13683 |
SIGNORi | Q13683 |
Protein family/group databases
TCDBi | 8.A.54.1.5, the integrin (integrin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Integrin alpha-7Cleaved into the following 3 chains: |
Gene namesi | Name:ITGA7 ORF Names:UNQ406/PRO768 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6143, ITGA7 |
MIMi | 600536, gene |
neXtProti | NX_Q13683 |
VEuPathDBi | HostDB:ENSG00000135424.15 |
Subcellular locationi
Other locations
Plasma Membrane
- integrin complex Source: InterPro
- plasma membrane Source: Reactome
Other locations
- cell surface Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 34 – 1082 | ExtracellularSequence analysisAdd BLAST | 1049 | |
Transmembranei | 1083 – 1103 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1104 – 1181 | CytoplasmicSequence analysisAdd BLAST | 78 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI)1 Publication
Keywords - Diseasei
Congenital muscular dystrophyOrganism-specific databases
DisGeNETi | 3679 |
MalaCardsi | ITGA7 |
MIMi | 613204, phenotype |
OpenTargetsi | ENSG00000135424 |
Orphaneti | 2020, Congenital fiber-type disproportion myopathy 34520, Congenital muscular dystrophy with integrin alpha-7 deficiency |
PharmGKBi | PA29943 |
Miscellaneous databases
Pharosi | Q13683, Tbio |
Genetic variation databases
BioMutai | ITGA7 |
DMDMi | 308153592 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 33 | 2 PublicationsAdd BLAST | 33 | |
ChainiPRO_0000016267 | 34 – 1181 | Integrin alpha-7Add BLAST | 1148 | |
ChainiPRO_0000016268 | 34 – 955 | Integrin alpha-7 heavy chainSequence analysisAdd BLAST | 922 | |
ChainiPRO_0000398833 | 648 – 1181 | Integrin alpha-7 70 kDa formAdd BLAST | 534 | |
ChainiPRO_0000016269 | 959 – 1181 | Integrin alpha-7 light chainSequence analysisAdd BLAST | 223 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 86 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 94 ↔ 103 | By similarity | ||
Disulfide bondi | 140 ↔ 163 | By similarity | ||
Disulfide bondi | 184 ↔ 197 | By similarity | ||
Disulfide bondi | 539 ↔ 546 | By similarity | ||
Disulfide bondi | 552 ↔ 615 | By similarity | ||
Disulfide bondi | 681 ↔ 687 | By similarity | ||
Disulfide bondi | 781 ↔ 792 | By similarity | ||
Glycosylationi | 786 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 939 ↔ 994 | Interchain (between heavy and light chains)By similarity | ||
Glycosylationi | 989 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1001 ↔ 1006 | By similarity | ||
Glycosylationi | 1025 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 1045 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 647 – 648 | Cleavage; by urokinase | 2 |
Keywords - PTMi
ADP-ribosylation, Cleavage on pair of basic residues, Disulfide bond, GlycoproteinProteomic databases
EPDi | Q13683 |
jPOSTi | Q13683 |
MassIVEi | Q13683 |
MaxQBi | Q13683 |
PaxDbi | Q13683 |
PeptideAtlasi | Q13683 |
PRIDEi | Q13683 |
ProteomicsDBi | 59654 [Q13683-1] 59655 [Q13683-10] 59656 [Q13683-13] 59657 [Q13683-3] 59658 [Q13683-7] 59659 [Q13683-9] |
PTM databases
GlyGeni | Q13683, 5 sites |
iPTMneti | Q13683 |
PhosphoSitePlusi | Q13683 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000135424, Expressed in heart left ventricle and 225 other tissues |
ExpressionAtlasi | Q13683, baseline and differential |
Genevisiblei | Q13683, HS |
Organism-specific databases
HPAi | ENSG00000135424, Tissue enhanced (heart muscle, skeletal muscle) |
Interactioni
Subunit structurei
Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-7 associates with beta-1.
Interacts with COMP (By similarity).
Interacts (via C-terminus intracellular tail region) with CIB1; the interaction is stabilized/increased in a calcium- and magnesium-dependent manner.
By similarity1 PublicationProtein-protein interaction databases
BioGRIDi | 109885, 40 interactors |
ComplexPortali | CPX-1804, Integrin alpha7-beta1 complex |
CORUMi | Q13683 |
DIPi | DIP-5981N |
IntActi | Q13683, 24 interactors |
MINTi | Q13683 |
STRINGi | 9606.ENSP00000452120 |
Miscellaneous databases
RNActi | Q13683, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 35 – 103 | FG-GAP 1PROSITE-ProRule annotationAdd BLAST | 69 | |
Repeati | 110 – 175 | FG-GAP 2PROSITE-ProRule annotationAdd BLAST | 66 | |
Repeati | 185 – 238 | FG-GAP 3PROSITE-ProRule annotationAdd BLAST | 54 | |
Repeati | 292 – 349 | FG-GAP 4PROSITE-ProRule annotationAdd BLAST | 58 | |
Repeati | 350 – 411 | FG-GAP 5PROSITE-ProRule annotationAdd BLAST | 62 | |
Repeati | 412 – 467 | FG-GAP 6PROSITE-ProRule annotationAdd BLAST | 56 | |
Repeati | 471 – 530 | FG-GAP 7PROSITE-ProRule annotationAdd BLAST | 60 | |
Repeati | 1157 – 1160 | 1 | 4 | |
Repeati | 1165 – 1168 | 2 | 4 | |
Repeati | 1173 – 1176 | 3 | 4 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1157 – 1176 | 3 X 4 AA repeats of D-X-H-PAdd BLAST | 20 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 1107 – 1111 | GFFKR motif | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 953 – 958 | Poly-Arg | 6 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3637, Eukaryota |
GeneTreei | ENSGT00940000159891 |
InParanoidi | Q13683 |
OMAi | HIDFEGT |
OrthoDBi | 743479at2759 |
PhylomeDBi | Q13683 |
TreeFami | TF105391 |
Family and domain databases
Gene3Di | 2.130.10.130, 2 hits |
InterProi | View protein in InterPro IPR013517, FG-GAP IPR013519, Int_alpha_beta-p IPR000413, Integrin_alpha IPR013649, Integrin_alpha-2 IPR018184, Integrin_alpha_C_CS IPR028994, Integrin_alpha_N IPR032695, Integrin_dom_sf |
Pfami | View protein in Pfam PF01839, FG-GAP, 2 hits PF08441, Integrin_alpha2, 1 hit |
PRINTSi | PR01185, INTEGRINA |
SMARTi | View protein in SMART SM00191, Int_alpha, 5 hits |
SUPFAMi | SSF69179, SSF69179, 3 hits |
PROSITEi | View protein in PROSITE PS51470, FG_GAP, 7 hits PS00242, INTEGRIN_ALPHA, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAGARSRDPW GASGICYLFG SLLVELLFSR AVAFNLDVMG ALRKEGEPGS
60 70 80 90 100
LFGFSVALHR QLQPRPQSWL LVGAPQALAL PGQQANRTGG LFACPLSLEE
110 120 130 140 150
TDCYRVDIDQ GADMQKESKE NQWLGVSVRS QGPGGKIVTC AHRYEARQRV
160 170 180 190 200
DQILETRDMI GRCFVLSQDL AIRDELDGGE WKFCEGRPQG HEQFGFCQQG
210 220 230 240 250
TAAAFSPDSH YLLFGAPGTY NWKGTARVEL CAQGSADLAH LDDGPYEAGG
260 270 280 290 300
EKEQDPRLIP VPANSYFGLL FVTNIDSSDP DQLVYKTLDP ADRLPGPAGD
310 320 330 340 350
LALNSYLGFS IDSGKGLVRA EELSFVAGAP RANHKGAVVI LRKDSASRLV
360 370 380 390 400
PEVMLSGERL TSGFGYSLAV ADLNSDGWPD LIVGAPYFFE RQEELGGAVY
410 420 430 440 450
VYLNQGGHWA GISPLRLCGS PDSMFGISLA VLGDLNQDGF PDIAVGAPFD
460 470 480 490 500
GDGKVFIYHG SSLGVVAKPS QVLEGEAVGI KSFGYSLSGS LDMDGNQYPD
510 520 530 540 550
LLVGSLADTA VLFRARPILH VSHEVSIAPR SIDLEQPNCA GGHSVCVDLR
560 570 580 590 600
VCFSYIAVPS SYSPTVALDY VLDADTDRRL RGQVPRVTFL SRNLEEPKHQ
610 620 630 640 650
ASGTVWLKHQ HDRVCGDAMF QLQENVKDKL RAIVVTLSYS LQTPRLRRQA
660 670 680 690 700
PGQGLPPVAP ILNAHQPSTQ RAEIHFLKQG CGEDKICQSN LQLVRARFCT
710 720 730 740 750
RVSDTEFQPL PMDVDGTTAL FALSGQPVIG LELMVTNLPS DPAQPQADGD
760 770 780 790 800
DAHEAQLLVM LPDSLHYSGV RALDPAEKPL CLSNENASHV ECELGNPMKR
810 820 830 840 850
GAQVTFYLIL STSGISIETT ELEVELLLAT ISEQELHPVS ARARVFIELP
860 870 880 890 900
LSIAGMAIPQ QLFFSGVVRG ERAMQSERDV GSKVKYEVTV SNQGQSLRTL
910 920 930 940 950
GSAFLNIMWP HEIANGKWLL YPMQVELEGG QGPGQKGLCS PRPNILHLDV
960 970 980 990 1000
DSRDRRRREL EPPEQQEPGE RQEPSMSWWP VSSAEKKKNI TLDCARGTAN
1010 1020 1030 1040 1050
CVVFSCPLYS FDRAAVLHVW GRLWNSTFLE EYSAVKSLEV IVRANITVKS
1060 1070 1080 1090 1100
SIKNLMLRDA STVIPVMVYL DPMAVVAEGV PWWVILLAVL AGLLVLALLV
1110 1120 1130 1140 1150
LLLWKMGFFK RAKHPEATVP QYHAVKIPRE DRQQFKEEKT GTILRNNWGS
1160 1170 1180
PRREGPDAHP ILAADGHPEL GPDGHPGPGT A
The sequence of this isoform differs from the canonical sequence as follows:
268-307: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
224-267: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
702-776: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1106-1181: MGFFKRAKHP...PDGHPGPGTA → CGFFHRSSQS...PRPPCPSTMR
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KNV4 | J3KNV4_HUMAN | Integrin alpha-7 | ITGA7 | 1,131 | Annotation score: | ||
H0YJ98 | H0YJ98_HUMAN | Integrin alpha-7 | ITGA7 | 148 | Annotation score: | ||
G3V2C6 | G3V2C6_HUMAN | Integrin alpha-7 | ITGA7 | 153 | Annotation score: | ||
H0YJ26 | H0YJ26_HUMAN | Integrin alpha-7 | ITGA7 | 109 | Annotation score: | ||
G3V2I4 | G3V2I4_HUMAN | Integrin alpha-7 | ITGA7 | 98 | Annotation score: | ||
G3V3L8 | G3V3L8_HUMAN | Integrin alpha-7 | ITGA7 | 55 | Annotation score: | ||
H0YJS5 | H0YJS5_HUMAN | Integrin alpha-7 | ITGA7 | 35 | Annotation score: | ||
G3V2Q6 | G3V2Q6_HUMAN | Integrin alpha-7 | ITGA7 | 48 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 873 | A → T in AAC18968 (PubMed:9590299).Curated | 1 | |
Sequence conflicti | 1005 | S → I in AAC18968 (PubMed:9590299).Curated | 1 | |
Sequence conflicti | 1013 | R → H in AAH50280 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067015 | 457 | I → V1 PublicationCorresponds to variant dbSNP:rs17857367Ensembl. | 1 | |
Natural variantiVAR_067016 | 506 | L → M1 PublicationCorresponds to variant dbSNP:rs17854599Ensembl. | 1 | |
Natural variantiVAR_067017 | 586 | R → H1 PublicationCorresponds to variant dbSNP:rs17854598Ensembl. | 1 | |
Natural variantiVAR_014759 | 695 | R → H6 PublicationsCorresponds to variant dbSNP:rs1800974Ensembl. | 1 | |
Natural variantiVAR_067018 | 696 | A → V1 PublicationCorresponds to variant dbSNP:rs17855684Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_040487 | 1 – 97 | Missing in isoform 2. 1 PublicationAdd BLAST | 97 | |
Alternative sequenceiVSP_040488 | 98 – 138 | LEETD…GGKIV → MAPFATPMVQALTTTRIQRQ AEGFQCWRECGTRRSPFEGK E in isoform 2. 1 PublicationAdd BLAST | 41 | |
Alternative sequenceiVSP_002727 | 224 – 267 | Missing in isoform Alpha-7X2B. 4 PublicationsAdd BLAST | 44 | |
Alternative sequenceiVSP_002728 | 268 – 307 | Missing in isoform Alpha-7X1B and isoform 2. 2 PublicationsAdd BLAST | 40 | |
Alternative sequenceiVSP_042364 | 702 – 776 | Missing in isoform Alpha-7X2DB. 1 PublicationAdd BLAST | 75 | |
Alternative sequenceiVSP_002730 | 1106 – 1181 | MGFFK…GPGTA → CGFFHRSSQSSSFPTNYHRA CLAVQPSAMEVGGPGTVGWD SSNGRSTPRPPCPSTMR in isoform Alpha-7X1X2A. 1 PublicationAdd BLAST | 76 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000257879; ENSP00000257879; ENSG00000135424 [Q13683-7] ENST00000452168; ENSP00000393844; ENSG00000135424 [Q13683-13] ENST00000553804; ENSP00000452120; ENSG00000135424 [Q13683-3] ENST00000555728; ENSP00000452387; ENSG00000135424 [Q13683-1] |
GeneIDi | 3679 |
KEGGi | hsa:3679 |
UCSCi | uc001shg.4, human [Q13683-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 109885, 40 interactors |
ComplexPortali | CPX-1804, Integrin alpha7-beta1 complex |
CORUMi | Q13683 |
DIPi | DIP-5981N |
IntActi | Q13683, 24 interactors |
MINTi | Q13683 |
STRINGi | 9606.ENSP00000452120 |
Protein family/group databases
TCDBi | 8.A.54.1.5, the integrin (integrin) family |
PTM databases
GlyGeni | Q13683, 5 sites |
iPTMneti | Q13683 |
PhosphoSitePlusi | Q13683 |
Genetic variation databases
BioMutai | ITGA7 |
DMDMi | 308153592 |
Proteomic databases
EPDi | Q13683 |
jPOSTi | Q13683 |
MassIVEi | Q13683 |
MaxQBi | Q13683 |
PaxDbi | Q13683 |
PeptideAtlasi | Q13683 |
PRIDEi | Q13683 |
ProteomicsDBi | 59654 [Q13683-1] 59655 [Q13683-10] 59656 [Q13683-13] 59657 [Q13683-3] 59658 [Q13683-7] 59659 [Q13683-9] |
Protocols and materials databases
Antibodypediai | 1495, 266 antibodies |
Genome annotation databases
Ensembli | ENST00000257879; ENSP00000257879; ENSG00000135424 [Q13683-7] ENST00000452168; ENSP00000393844; ENSG00000135424 [Q13683-13] ENST00000553804; ENSP00000452120; ENSG00000135424 [Q13683-3] ENST00000555728; ENSP00000452387; ENSG00000135424 [Q13683-1] |
GeneIDi | 3679 |
KEGGi | hsa:3679 |
UCSCi | uc001shg.4, human [Q13683-1] |
Organism-specific databases
CTDi | 3679 |
DisGeNETi | 3679 |
GeneCardsi | ITGA7 |
HGNCi | HGNC:6143, ITGA7 |
HPAi | ENSG00000135424, Tissue enhanced (heart muscle, skeletal muscle) |
MalaCardsi | ITGA7 |
MIMi | 600536, gene 613204, phenotype |
neXtProti | NX_Q13683 |
OpenTargetsi | ENSG00000135424 |
Orphaneti | 2020, Congenital fiber-type disproportion myopathy 34520, Congenital muscular dystrophy with integrin alpha-7 deficiency |
PharmGKBi | PA29943 |
VEuPathDBi | HostDB:ENSG00000135424.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3637, Eukaryota |
GeneTreei | ENSGT00940000159891 |
InParanoidi | Q13683 |
OMAi | HIDFEGT |
OrthoDBi | 743479at2759 |
PhylomeDBi | Q13683 |
TreeFami | TF105391 |
Enzyme and pathway databases
PathwayCommonsi | Q13683 |
Reactomei | R-HSA-216083, Integrin cell surface interactions R-HSA-3000157, Laminin interactions R-HSA-3000178, ECM proteoglycans |
SignaLinki | Q13683 |
SIGNORi | Q13683 |
Miscellaneous databases
BioGRID-ORCSi | 3679, 10 hits in 985 CRISPR screens |
ChiTaRSi | ITGA7, human |
GeneWikii | ITGA7 |
GenomeRNAii | 3679 |
Pharosi | Q13683, Tbio |
PROi | PR:Q13683 |
RNActi | Q13683, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135424, Expressed in heart left ventricle and 225 other tissues |
ExpressionAtlasi | Q13683, baseline and differential |
Genevisiblei | Q13683, HS |
Family and domain databases
Gene3Di | 2.130.10.130, 2 hits |
InterProi | View protein in InterPro IPR013517, FG-GAP IPR013519, Int_alpha_beta-p IPR000413, Integrin_alpha IPR013649, Integrin_alpha-2 IPR018184, Integrin_alpha_C_CS IPR028994, Integrin_alpha_N IPR032695, Integrin_dom_sf |
Pfami | View protein in Pfam PF01839, FG-GAP, 2 hits PF08441, Integrin_alpha2, 1 hit |
PRINTSi | PR01185, INTEGRINA |
SMARTi | View protein in SMART SM00191, Int_alpha, 5 hits |
SUPFAMi | SSF69179, SSF69179, 3 hits |
PROSITEi | View protein in PROSITE PS51470, FG_GAP, 7 hits PS00242, INTEGRIN_ALPHA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ITA7_HUMAN | |
Accessioni | Q13683Primary (citable) accession number: Q13683 Secondary accession number(s): B4E3U0 Q9UEV2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | October 5, 2010 | |
Last modified: | April 7, 2021 | |
This is version 200 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families