UniProtKB - Q99700 (ATX2_HUMAN)
Ataxin-2
ATXN2
Functioni
GO - Molecular functioni
- epidermal growth factor receptor binding Source: UniProtKB
- protein C-terminus binding Source: UniProtKB
- RNA binding Source: UniProtKB
GO - Biological processi
- negative regulation of receptor internalization Source: UniProtKB
- P-body assembly Source: UniProtKB
- regulation of cytoplasmic mRNA processing body assembly Source: GO_Central
- regulation of translation Source: UniProtKB
- RNA metabolic process Source: UniProtKB
- RNA transport Source: UniProtKB
- stress granule assembly Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q99700 |
SIGNORi | Q99700 |
Names & Taxonomyi
Protein namesi | Recommended name: Ataxin-2Alternative name(s): Spinocerebellar ataxia type 2 protein Trinucleotide repeat-containing gene 13 protein |
Gene namesi | Name:ATXN2 Synonyms:ATX2, SCA2, TNRC13 |
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
EuPathDBi | HostDB:ENSG00000204842.14 |
HGNCi | HGNC:10555, ATXN2 |
MIMi | 601517, gene |
neXtProti | NX_Q99700 |
Subcellular locationi
Other locations
- Cytoplasm By similarity
Cytosol
- cytosol Source: HPA
Golgi apparatus
- Golgi apparatus Source: UniProtKB
- trans-Golgi network Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- cytoplasmic stress granule Source: UniProtKB
- membrane Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB
- polysome Source: UniProtKB
- ribonucleoprotein complex Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia 2 (SCA2)3 Publications
Amyotrophic lateral sclerosis 13 (ALS13)1 Publication
Keywords - Diseasei
Amyotrophic lateral sclerosis, Neurodegeneration, Parkinsonism, Spinocerebellar ataxiaOrganism-specific databases
DisGeNETi | 6311 |
GeneReviewsi | ATXN2 |
MalaCardsi | ATXN2 |
MIMi | 183090, phenotype |
OpenTargetsi | ENSG00000204842 |
Orphaneti | 803, Amyotrophic lateral sclerosis 98756, Spinocerebellar ataxia type 2 |
PharmGKBi | PA34968 |
Miscellaneous databases
Pharosi | Q99700, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1795085 |
Polymorphism and mutation databases
BioMutai | ATXN2 |
DMDMi | 215273941 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064756 | 1 – 1313 | Ataxin-2Add BLAST | 1313 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 248 | PhosphoserineBy similarity | 1 | |
Modified residuei | 393 | PhosphoserineCombined sources | 1 | |
Modified residuei | 466 | PhosphoserineCombined sources | 1 | |
Modified residuei | 478 | PhosphoserineCombined sources | 1 | |
Modified residuei | 508 | PhosphoserineCombined sources | 1 | |
Modified residuei | 554 | PhosphoserineCombined sources | 1 | |
Modified residuei | 624 | PhosphoserineCombined sources | 1 | |
Modified residuei | 640 | Asymmetric dimethylarginine; alternateBy similarity | 1 | |
Modified residuei | 640 | Omega-N-methylarginine; alternateCombined sources | 1 | |
Modified residuei | 642 | PhosphoserineCombined sources | 1 | |
Modified residuei | 684 | PhosphoserineCombined sources | 1 | |
Modified residuei | 728 | PhosphoserineCombined sources | 1 | |
Modified residuei | 741 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 772 | PhosphoserineCombined sources | 1 | |
Modified residuei | 784 | PhosphoserineCombined sources | 1 | |
Modified residuei | 856 | PhosphoserineBy similarity | 1 | |
Modified residuei | 857 | PhosphoserineCombined sources | 1 | |
Modified residuei | 861 | PhosphoserineCombined sources | 1 | |
Modified residuei | 865 | PhosphoserineCombined sources | 1 | |
Modified residuei | 867 | PhosphoserineBy similarity | 1 | |
Modified residuei | 888 | PhosphoserineCombined sources | 1 | |
Modified residuei | 889 | PhosphoserineCombined sources | 1 | |
Cross-linki | 893 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q99700 |
jPOSTi | Q99700 |
MassIVEi | Q99700 |
MaxQBi | Q99700 |
PaxDbi | Q99700 |
PeptideAtlasi | Q99700 |
PRIDEi | Q99700 |
ProteomicsDBi | 61268 78409 [Q99700-1] 78410 [Q99700-2] 78411 [Q99700-3] 78412 [Q99700-4] |
PTM databases
iPTMneti | Q99700 |
MetOSitei | Q99700 |
PhosphoSitePlusi | Q99700 |
SwissPalmi | Q99700 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000204842, Expressed in corpus callosum and 237 other tissues |
ExpressionAtlasi | Q99700, baseline and differential |
Genevisiblei | Q99700, HS |
Organism-specific databases
HPAi | ENSG00000204842, Low tissue specificity |
Interactioni
Subunit structurei
Monomer (By similarity). Can also form homodimers (By similarity).
Interacts with TARDBP; the interaction is RNA-dependent (PubMed:20740007).
Interacts with RBFOX1 (PubMed:10814712).
Interacts with polyribosomes (PubMed:16835262).
Interacts with SH3GL2 and SH3GL3 (PubMed:18602463).
Interacts with SH3KBP1 and CBL (By similarity).
Interacts with EGFR (PubMed:18602463).
Interacts with ATXN2L (PubMed:23209657).
By similarity5 PublicationsBinary interactionsi
Hide detailsQ99700
GO - Molecular functioni
- epidermal growth factor receptor binding Source: UniProtKB
- protein C-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112218, 97 interactors |
DIPi | DIP-33372N |
ELMi | Q99700 |
IntActi | Q99700, 60 interactors |
MINTi | Q99700 |
STRINGi | 9606.ENSP00000366843 |
Chemistry databases
BindingDBi | Q99700 |
Miscellaneous databases
RNActi | Q99700, protein |
Structurei
3D structure databases
SMRi | Q99700 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q99700 |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 47 – 158 | Pro-richAdd BLAST | 112 | |
Compositional biasi | 55 – 64 | Poly-Pro | 10 | |
Compositional biasi | 166 – 187 | Poly-GlnAdd BLAST | 22 | |
Compositional biasi | 213 – 223 | Poly-SerAdd BLAST | 11 | |
Compositional biasi | 551 – 734 | Pro-richAdd BLAST | 184 | |
Compositional biasi | 929 – 1085 | Pro-richAdd BLAST | 157 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2375, Eukaryota |
GeneTreei | ENSGT00940000156812 |
InParanoidi | Q99700 |
OMAi | APMMMHQ |
OrthoDBi | 282700at2759 |
PhylomeDBi | Q99700 |
TreeFami | TF326591 |
Family and domain databases
IDEALi | IID00580 |
InterProi | View protein in InterPro IPR009818, Ataxin-2_C IPR033093, ATXN2 IPR010920, LSM_dom_sf IPR009604, LsmAD_domain IPR025852, SM_dom_ATX |
PANTHERi | PTHR12854:SF11, PTHR12854:SF11, 1 hit |
Pfami | View protein in Pfam PF06741, LsmAD, 1 hit PF07145, PAM2, 1 hit PF14438, SM-ATX, 1 hit |
SMARTi | View protein in SMART SM01272, LsmAD, 1 hit |
SUPFAMi | SSF50182, SSF50182, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 23 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
MRSAAAAPRS PAVATESRRF AAARWPGWRS LQRPARRSGR GGGGAAPGPY
60 70 80 90 100
PSAAPPPPGP GPPPSRQSSP PSASDCFGSN GNGGGAFRPG SRRLLGLGGP
110 120 130 140 150
PRPFVVLLLP LASPGAPPAA PTRASPLGAR ASPPRSGVSL ARPAPGCPRP
160 170 180 190 200
ACEPVYGPLT MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG
210 220 230 240 250
GSGLLASPAA APSPSSSSVS SSSATAPSSV VAATSGGGRP GLGRGRNSNK
260 270 280 290 300
GLPQSTISFD GIYANMRMVH ILTSVVGSKC EVQVKNGGIY EGVFKTYSPK
310 320 330 340 350
CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF KDMDSSYAKR
360 370 380 390 400
DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
410 420 430 440 450
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES
460 470 480 490 500
SAQYKARVAL ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN
510 520 530 540 550
REVISWGSGR QNSPRMGQPG SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV
560 570 580 590 600
PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT PTRPPSRPPS RPSRPPSHPS
610 620 630 640 650
AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR GSISSGLEFV
660 670 680 690 700
SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
710 720 730 740 750
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR
760 770 780 790 800
LQDQRQNSPA GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF
810 820 830 840 850
KNDFRLQPSS TSESMDQLLN KNREGEKSRD LIKDKIEPSA KDSFIENSSS
860 870 880 890 900
NCTSGSSKPN SPSISPSILS NTEHKRGPEV TSQGVQTSSP ACKQEKDDKE
910 920 930 940 950
EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP QAQPSPSMVG
960 970 980 990 1000
HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV
1010 1020 1030 1040 1050
PNMPQQRQDQ HHQSAMMHPA SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP
1060 1070 1080 1090 1100
LVQHVPHYQS QHPHVYSPVI QGNARMMAPP THAQPGLVSS SATQYGAHEQ
1110 1120 1130 1140 1150
THAMYACPKL PYNKETSPSF YFAISTGSLA QQYAHPNATL HPHTPHPQPS
1160 1170 1180 1190 1200
ATPTGQQQSQ HGGSHPAPSP VQHHQHQAAQ ALHLASPQQQ SAIYHAGLAP
1210 1220 1230 1240 1250
TPPSMTPASN TQSPQNSFPA AQQTVFTIHP SHVQPAYTNP PHMAHVPQAH
1260 1270 1280 1290 1300
VQSGMVPSHP TAHAPMMLMT TQPPGGPQAA LAQSALQPIP VSTTAHFPYM
1310
THPSVQAHHQ QQL
Computationally mapped potential isoform sequencesi
There are 23 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VQP2 | F8VQP2_HUMAN | Ataxin-2 | ATXN2 | 1,073 | Annotation score: | ||
F8WB06 | F8WB06_HUMAN | Ataxin-2 | ATXN2 | 1,087 | Annotation score: | ||
V9GY86 | V9GY86_HUMAN | Ataxin-2 | ATXN2 | 1,153 | Annotation score: | ||
F8WB05 | F8WB05_HUMAN | Ataxin-2 | ATXN2 | 424 | Annotation score: | ||
H0YH87 | H0YH87_HUMAN | Ataxin-2 | ATXN2 | 835 | Annotation score: | ||
A0A2R8Y5A6 | A0A2R8Y5A6_HUMAN | Ataxin-2 | ATXN2 | 1,166 | Annotation score: | ||
A0A2R8Y7P6 | A0A2R8Y7P6_HUMAN | Ataxin-2 | ATXN2 | 957 | Annotation score: | ||
A0A2R8YDM9 | A0A2R8YDM9_HUMAN | Ataxin-2 | ATXN2 | 968 | Annotation score: | ||
A0A2R8Y7E6 | A0A2R8Y7E6_HUMAN | Ataxin-2 | ATXN2 | 1,158 | Annotation score: | ||
A0A5F9ZH85 | A0A5F9ZH85_HUMAN | Ataxin-2 | ATXN2 | 347 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 188 | Missing in AAB19200 (PubMed:8896555).Curated | 1 | |
Sequence conflicti | 188 | Missing in CAA69589 (PubMed:8896557).Curated | 1 |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047629 | 107 | L → V2 PublicationsCorresponds to variant dbSNP:rs695871Ensembl. | 1 | |
Natural variantiVAR_047630 | 248 | S → N. Corresponds to variant dbSNP:rs7969300Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011574 | 1 – 981 | Missing in isoform 3. 1 PublicationAdd BLAST | 981 | |
Alternative sequenceiVSP_057285 | 1 – 265 | Missing in isoform 5. 1 PublicationAdd BLAST | 265 | |
Alternative sequenceiVSP_057286 | 277 – 300 | Missing in isoform 5. 1 PublicationAdd BLAST | 24 | |
Alternative sequenceiVSP_011575 | 980 – 995 | PLYPI…VNQAK → YQICPNSGKTSIIRVP in isoform 2. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_011576 | 982 – 998 | YPIPM…AKTYR → MYYAVEILFNRQSAFFS in isoform 3. 1 PublicationAdd BLAST | 17 | |
Alternative sequenceiVSP_011577 | 996 – 1313 | Missing in isoform 2. 1 PublicationAdd BLAST | 318 | |
Alternative sequenceiVSP_057287 | 1106 – 1124 | ACPKL…FYFAI → V in isoform 5. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_011578 | 1106 – 1123 | Missing in isoform 3. 1 PublicationAdd BLAST | 18 | |
Alternative sequenceiVSP_011579 | 1124 | I → V in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_011582 | 1244 – 1313 | Missing in isoform 4. CuratedAdd BLAST | 70 | |
Alternative sequenceiVSP_011580 | 1249 – 1257 | AHVQSGMVP → VIPALANFL in isoform 3. 1 Publication | 9 | |
Alternative sequenceiVSP_011581 | 1258 – 1313 | Missing in isoform 3. 1 PublicationAdd BLAST | 56 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U70323 mRNA Translation: AAB19200.1 AK128613 mRNA Translation: BAC87528.1 AC002395 Genomic DNA No translation available. AC137055 Genomic DNA No translation available. KF455720 Genomic DNA No translation available. BC114546 mRNA Translation: AAI14547.1 Y08262 mRNA Translation: CAA69589.1 |
CCDSi | CCDS81738.1 [Q99700-5] |
RefSeqi | NP_001297052.1, NM_001310123.1 [Q99700-5] NP_002964.3, NM_002973.3 |
Genome annotation databases
Ensembli | ENST00000535949; ENSP00000439338; ENSG00000204842 [Q99700-5] ENST00000550104; ENSP00000446576; ENSG00000204842 [Q99700-1] ENST00000616825; ENSP00000481448; ENSG00000204842 [Q99700-5] |
GeneIDi | 6311 |
KEGGi | hsa:6311 |
UCSCi | uc001tsj.3, human [Q99700-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism, Triplet repeat expansionSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U70323 mRNA Translation: AAB19200.1 AK128613 mRNA Translation: BAC87528.1 AC002395 Genomic DNA No translation available. AC137055 Genomic DNA No translation available. KF455720 Genomic DNA No translation available. BC114546 mRNA Translation: AAI14547.1 Y08262 mRNA Translation: CAA69589.1 |
CCDSi | CCDS81738.1 [Q99700-5] |
RefSeqi | NP_001297052.1, NM_001310123.1 [Q99700-5] NP_002964.3, NM_002973.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3KTR | X-ray | 1.70 | B | 912-928 | [»] | |
SMRi | Q99700 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112218, 97 interactors |
DIPi | DIP-33372N |
ELMi | Q99700 |
IntActi | Q99700, 60 interactors |
MINTi | Q99700 |
STRINGi | 9606.ENSP00000366843 |
Chemistry databases
BindingDBi | Q99700 |
ChEMBLi | CHEMBL1795085 |
PTM databases
iPTMneti | Q99700 |
MetOSitei | Q99700 |
PhosphoSitePlusi | Q99700 |
SwissPalmi | Q99700 |
Polymorphism and mutation databases
BioMutai | ATXN2 |
DMDMi | 215273941 |
Proteomic databases
EPDi | Q99700 |
jPOSTi | Q99700 |
MassIVEi | Q99700 |
MaxQBi | Q99700 |
PaxDbi | Q99700 |
PeptideAtlasi | Q99700 |
PRIDEi | Q99700 |
ProteomicsDBi | 61268 78409 [Q99700-1] 78410 [Q99700-2] 78411 [Q99700-3] 78412 [Q99700-4] |
Protocols and materials databases
Antibodypediai | 18563, 264 antibodies |
Genome annotation databases
Ensembli | ENST00000535949; ENSP00000439338; ENSG00000204842 [Q99700-5] ENST00000550104; ENSP00000446576; ENSG00000204842 [Q99700-1] ENST00000616825; ENSP00000481448; ENSG00000204842 [Q99700-5] |
GeneIDi | 6311 |
KEGGi | hsa:6311 |
UCSCi | uc001tsj.3, human [Q99700-1] |
Organism-specific databases
CTDi | 6311 |
DisGeNETi | 6311 |
EuPathDBi | HostDB:ENSG00000204842.14 |
GeneCardsi | ATXN2 |
GeneReviewsi | ATXN2 |
HGNCi | HGNC:10555, ATXN2 |
HPAi | ENSG00000204842, Low tissue specificity |
MalaCardsi | ATXN2 |
MIMi | 183090, phenotype 601517, gene |
neXtProti | NX_Q99700 |
OpenTargetsi | ENSG00000204842 |
Orphaneti | 803, Amyotrophic lateral sclerosis 98756, Spinocerebellar ataxia type 2 |
PharmGKBi | PA34968 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2375, Eukaryota |
GeneTreei | ENSGT00940000156812 |
InParanoidi | Q99700 |
OMAi | APMMMHQ |
OrthoDBi | 282700at2759 |
PhylomeDBi | Q99700 |
TreeFami | TF326591 |
Enzyme and pathway databases
PathwayCommonsi | Q99700 |
SIGNORi | Q99700 |
Miscellaneous databases
BioGRID-ORCSi | 6311, 10 hits in 849 CRISPR screens |
ChiTaRSi | ATXN2, human |
EvolutionaryTracei | Q99700 |
GeneWikii | ATXN2 |
GenomeRNAii | 6311 |
Pharosi | Q99700, Tbio |
PROi | PR:Q99700 |
RNActi | Q99700, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204842, Expressed in corpus callosum and 237 other tissues |
ExpressionAtlasi | Q99700, baseline and differential |
Genevisiblei | Q99700, HS |
Family and domain databases
IDEALi | IID00580 |
InterProi | View protein in InterPro IPR009818, Ataxin-2_C IPR033093, ATXN2 IPR010920, LSM_dom_sf IPR009604, LsmAD_domain IPR025852, SM_dom_ATX |
PANTHERi | PTHR12854:SF11, PTHR12854:SF11, 1 hit |
Pfami | View protein in Pfam PF06741, LsmAD, 1 hit PF07145, PAM2, 1 hit PF14438, SM-ATX, 1 hit |
SMARTi | View protein in SMART SM01272, LsmAD, 1 hit |
SUPFAMi | SSF50182, SSF50182, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ATX2_HUMAN | |
Accessioni | Q99700Primary (citable) accession number: Q99700 Secondary accession number(s): A6NLD4 Q99493 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 13, 2004 |
Last sequence update: | November 25, 2008 | |
Last modified: | December 2, 2020 | |
This is version 181 of the entry and version 2 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
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations