UniProtKB - Q99259 (DCE1_HUMAN)
Protein
Glutamate decarboxylase 1
Gene
GAD1
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the production of GABA.
Catalytic activityi
- EC:4.1.1.15
Cofactori
pyridoxal 5'-phosphate1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 567 | Substrate | 1 |
GO - Molecular functioni
- glutamate binding Source: Ensembl
- glutamate decarboxylase activity Source: UniProtKB
- protein-containing complex binding Source: Ensembl
- protein N-terminus binding Source: Ensembl
- pyridoxal phosphate binding Source: Ensembl
GO - Biological processi
- chemical synaptic transmission Source: ProtInc
- gamma-aminobutyric acid biosynthetic process Source: Ensembl
- glutamate catabolic process Source: UniProtKB
- glutamate decarboxylation to succinate Source: ProtInc
- locomotory exploration behavior Source: Ensembl
- neurotransmitter biosynthetic process Source: UniProtKB-KW
- neurotransmitter secretion Source: Reactome
- protein-pyridoxal-5-phosphate linkage Source: UniProtKB
- response to drug Source: Ensembl
- social behavior Source: Ensembl
Keywordsi
Molecular function | Decarboxylase, Lyase |
Biological process | Neurotransmitter biosynthesis |
Ligand | Pyridoxal phosphate |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05215-MONOMER |
BRENDAi | 4.1.1.15, 2681 |
PathwayCommonsi | Q99259 |
Reactomei | R-HSA-888568, GABA synthesis R-HSA-888590, GABA synthesis, release, reuptake and degradation R-HSA-9022927, MECP2 regulates transcription of genes involved in GABA signaling |
SIGNORi | Q99259 |
Names & Taxonomyi
Protein namesi | Recommended name: Glutamate decarboxylase 1 (EC:4.1.1.15)Alternative name(s): 67 kDa glutamic acid decarboxylase Short name: GAD-67 Glutamate decarboxylase 67 kDa isoform |
Gene namesi | Name:GAD1 Synonyms:GAD, GAD67 |
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:ENSG00000128683.13 |
HGNCi | HGNC:4092, GAD1 |
MIMi | 605363, gene |
neXtProti | NX_Q99259 |
Subcellular locationi
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- axon terminus Source: Ensembl
- cell cortex Source: Ensembl
- clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane Source: Reactome
- inhibitory synapse Source: Ensembl
- presynaptic active zone Source: Ensembl
- vesicle membrane Source: UniProtKB
Pathology & Biotechi
Involvement in diseasei
Cerebral palsy, spastic quadriplegic 1 (CPSQ1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031021 | 12 | S → C in CPSQ1. 1 PublicationCorresponds to variant dbSNP:rs121918345EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 2571 |
MalaCardsi | GAD1 |
MIMi | 603513, phenotype |
OpenTargetsi | ENSG00000128683 |
Orphaneti | 210141, Inherited congenital spastic tetraplegia |
PharmGKBi | PA28507 |
Miscellaneous databases
Pharosi | Q99259, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2614 |
DrugBanki | DB00142, Glutamic acid DB00114, Pyridoxal phosphate |
Polymorphism and mutation databases
BioMutai | GAD1 |
DMDMi | 1352213 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000146963 | 1 – 594 | Glutamate decarboxylase 1Add BLAST | 594 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 78 | PhosphoserineBy similarity | 1 | |
Modified residuei | 405 | N6-(pyridoxal phosphate)lysine | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q99259 |
MassIVEi | Q99259 |
PaxDbi | Q99259 |
PeptideAtlasi | Q99259 |
PRIDEi | Q99259 |
ProteomicsDBi | 62052 78255 [Q99259-1] 78256 [Q99259-3] |
PTM databases
iPTMneti | Q99259 |
PhosphoSitePlusi | Q99259 |
Expressioni
Tissue specificityi
Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.1 Publication
Gene expression databases
Bgeei | ENSG00000128683, Expressed in middle temporal gyrus and 170 other tissues |
ExpressionAtlasi | Q99259, baseline and differential |
Genevisiblei | Q99259, HS |
Organism-specific databases
HPAi | ENSG00000128683, Tissue enriched (brain) |
Interactioni
Subunit structurei
Homodimer.
1 PublicationBinary interactionsi
Hide detailsQ99259
GO - Molecular functioni
- protein N-terminus binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108845, 17 interactors |
ComplexPortali | CPX-3032, Glutamate decarboxylase 1 complex CPX-3065, Glutamate decarboxylase 1/2 complex |
DIPi | DIP-29292N |
IntActi | Q99259, 11 interactors |
MINTi | Q99259 |
STRINGi | 9606.ENSP00000350928 |
Miscellaneous databases
RNActi | Q99259, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q99259 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q99259 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 190 – 192 | Substrate binding | 3 |
Sequence similaritiesi
Belongs to the group II decarboxylase family.Curated
Phylogenomic databases
eggNOGi | KOG0629, Eukaryota |
GeneTreei | ENSGT00940000155526 |
HOGENOMi | CLU_011856_0_0_1 |
InParanoidi | Q99259 |
OMAi | RHATYHA |
PhylomeDBi | Q99259 |
TreeFami | TF314688 |
Family and domain databases
Gene3Di | 3.40.640.10, 1 hit |
InterProi | View protein in InterPro IPR002129, PyrdxlP-dep_de-COase IPR015424, PyrdxlP-dep_Trfase IPR015421, PyrdxlP-dep_Trfase_major IPR021115, Pyridoxal-P_BS |
Pfami | View protein in Pfam PF00282, Pyridoxal_deC, 1 hit |
SUPFAMi | SSF53383, SSF53383, 1 hit |
PROSITEi | View protein in PROSITE PS00392, DDC_GAD_HDC_YDC, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q99259-1) [UniParc]FASTAAdd to basket
Also known as: GAD67
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
MASSTPSSSA TSSNAGADPN TTNLRPTTYD TWCGVAHGCT RKLGLKICGF
60 70 80 90 100
LQRTNSLEEK SRLVSAFKER QSSKNLLSCE NSDRDARFRR TETDFSNLFA
110 120 130 140 150
RDLLPAKNGE EQTVQFLLEV VDILLNYVRK TFDRSTKVLD FHHPHQLLEG
160 170 180 190 200
MEGFNLELSD HPESLEQILV DCRDTLKYGV RTGHPRFFNQ LSTGLDIIGL
210 220 230 240 250
AGEWLTSTAN TNMFTYEIAP VFVLMEQITL KKMREIVGWS SKDGDGIFSP
260 270 280 290 300
GGAISNMYSI MAARYKYFPE VKTKGMAAVP KLVLFTSEQS HYSIKKAGAA
310 320 330 340 350
LGFGTDNVIL IKCNERGKII PADFEAKILE AKQKGYVPFY VNATAGTTVY
360 370 380 390 400
GAFDPIQEIA DICEKYNLWL HVDAAWGGGL LMSRKHRHKL NGIERANSVT
410 420 430 440 450
WNPHKMMGVL LQCSAILVKE KGILQGCNQM CAGYLFQPDK QYDVSYDTGD
460 470 480 490 500
KAIQCGRHVD IFKFWLMWKA KGTVGFENQI NKCLELAEYL YAKIKNREEF
510 520 530 540 550
EMVFNGEPEH TNVCFWYIPQ SLRGVPDSPQ RREKLHKVAP KIKALMMESG
560 570 580 590
TTMVGYQPQG DKANFFRMVI SNPAATQSDI DFLIEEIERL GQDL
Isoform 2 (identifier: Q99259-2)
Sequence is not available
Length:–
Mass (Da):–
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8WD43 | F8WD43_HUMAN | Glutamate decarboxylase 1 | GAD1 | 233 | Annotation score: | ||
C9JN45 | C9JN45_HUMAN | Glutamate decarboxylase 1 | GAD1 | 37 | Annotation score: | ||
C9J6C9 | C9J6C9_HUMAN | Glutamate decarboxylase 1 | GAD1 | 115 | Annotation score: | ||
C9JT43 | C9JT43_HUMAN | Glutamate decarboxylase 1 | GAD1 | 121 | Annotation score: | ||
C9JLZ7 | C9JLZ7_HUMAN | Glutamate decarboxylase 1 | GAD1 | 85 | Annotation score: | ||
U3KQR2 | U3KQR2_HUMAN | Glutamate decarboxylase 1 | GAD1 | 84 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 9 | Missing in AAA35900 (Ref. 7) Curated | 1 | |
Sequence conflicti | 16 – 17 | GA → EP in AAB59427 (PubMed:1339255).Curated | 2 | |
Sequence conflicti | 16 – 17 | GA → EP in CAA80435 (PubMed:1339255).Curated | 2 | |
Sequence conflicti | 17 | A → Q in AAA35900 (Ref. 7) Curated | 1 | |
Sequence conflicti | 18 | D → N in AAB26938 (PubMed:8507203).Curated | 1 | |
Sequence conflicti | 31 | T → N in AAB26938 (PubMed:8507203).Curated | 1 | |
Sequence conflicti | 68 | K → R in AAA62368 (PubMed:8088791).Curated | 1 | |
Sequence conflicti | 116 | F → L in AAB26938 (PubMed:8507203).Curated | 1 | |
Sequence conflicti | 136 | T → A in AAA35900 (Ref. 7) Curated | 1 | |
Sequence conflicti | 140 | D → E in AAA35900 (Ref. 7) Curated | 1 | |
Sequence conflicti | 142 | H → R in AAA35900 (Ref. 7) Curated | 1 | |
Sequence conflicti | 155 | N → T in AAB26938 (PubMed:8507203).Curated | 1 | |
Sequence conflicti | 206 | T → N in AAB59427 (PubMed:1339255).Curated | 1 | |
Sequence conflicti | 206 | T → N in CAA80435 (PubMed:1339255).Curated | 1 | |
Sequence conflicti | 302 | G → C in AAB26938 (PubMed:8507203).Curated | 1 | |
Sequence conflicti | 436 | F → L in AAB26937 (PubMed:8507202).Curated | 1 | |
Sequence conflicti | 477 | E → G in AAB26938 (PubMed:8507203).Curated | 1 | |
Sequence conflicti | 492 | A → G in AAB26938 (PubMed:8507203).Curated | 1 | |
Sequence conflicti | 512 | N → S in AAB26937 (PubMed:8507202).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031021 | 12 | S → C in CPSQ1. 1 PublicationCorresponds to variant dbSNP:rs121918345EnsemblClinVar. | 1 | |
Natural variantiVAR_018861 | 228 | I → L1 PublicationCorresponds to variant dbSNP:rs45566933EnsemblClinVar. | 1 | |
Natural variantiVAR_011882 | 474 | V → G. Corresponds to variant dbSNP:rs769403Ensembl. | 1 | |
Natural variantiVAR_011883 | 532 | R → Q1 PublicationCorresponds to variant dbSNP:rs769402EnsemblClinVar. | 1 | |
Natural variantiVAR_011884 | 565 | F → L. Corresponds to variant dbSNP:rs1049736Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_009123 | 214 – 224 | FTYEIAPVFVL → PSDMRECWLLR in isoform 3. 2 PublicationsAdd BLAST | 11 | |
Alternative sequenceiVSP_009124 | 225 – 594 | Missing in isoform 3. 2 PublicationsAdd BLAST | 370 | |
Alternative sequenceiVSP_054473 | 374 – 425 | AAWGG…KGILQ → GFNFSQLANRIICLATELMT NKGCVTWHPNYSVNMHHGCL GRWAAHVQEAPP in isoform 4. 1 PublicationAdd BLAST | 52 | |
Alternative sequenceiVSP_054474 | 426 – 594 | Missing in isoform 4. 1 PublicationAdd BLAST | 169 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M81883 mRNA Translation: AAA62368.1 L16888 mRNA Translation: AAB59427.1 Z22750 mRNA Translation: CAA80435.1 S61897 mRNA Translation: AAB26937.1 S61898 mRNA Translation: AAB26938.1 M86522 Genomic DNA Translation: AAA35900.1 AF178853 mRNA Translation: AAF18390.2 AY337516 Genomic DNA Translation: AAP88035.1 AC007405 Genomic DNA Translation: AAY24237.1 CH471058 Genomic DNA Translation: EAX11228.1 CH471058 Genomic DNA Translation: EAX11229.1 BC002815 mRNA Translation: AAH02815.1 BC026349 mRNA Translation: AAH26349.1 BC036552 mRNA Translation: AAH36552.1 M70434 mRNA Translation: AAA52512.1 M55574 mRNA Translation: AAA72938.1 |
CCDSi | CCDS2239.1 [Q99259-1] CCDS2240.1 [Q99259-3] |
PIRi | B41935 S48135 S51775 S51776 |
RefSeqi | NP_000808.2, NM_000817.2 [Q99259-1] NP_038473.2, NM_013445.3 [Q99259-3] XP_005246501.1, XM_005246444.2 [Q99259-3] XP_011509224.1, XM_011510922.1 [Q99259-1] XP_016859245.1, XM_017003756.1 [Q99259-1] XP_016859247.1, XM_017003758.1 [Q99259-3] |
Genome annotation databases
Ensembli | ENST00000344257; ENSP00000341167; ENSG00000128683 [Q99259-3] ENST00000358196; ENSP00000350928; ENSG00000128683 [Q99259-1] ENST00000375272; ENSP00000364421; ENSG00000128683 [Q99259-3] ENST00000493875; ENSP00000434696; ENSG00000128683 [Q99259-4] ENST00000625689; ENSP00000486612; ENSG00000128683 [Q99259-4] |
GeneIDi | 2571 |
KEGGi | hsa:2571 |
UCSCi | uc002ugh.4, human [Q99259-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Wikipedia Glutamate decarboxylase entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M81883 mRNA Translation: AAA62368.1 L16888 mRNA Translation: AAB59427.1 Z22750 mRNA Translation: CAA80435.1 S61897 mRNA Translation: AAB26937.1 S61898 mRNA Translation: AAB26938.1 M86522 Genomic DNA Translation: AAA35900.1 AF178853 mRNA Translation: AAF18390.2 AY337516 Genomic DNA Translation: AAP88035.1 AC007405 Genomic DNA Translation: AAY24237.1 CH471058 Genomic DNA Translation: EAX11228.1 CH471058 Genomic DNA Translation: EAX11229.1 BC002815 mRNA Translation: AAH02815.1 BC026349 mRNA Translation: AAH26349.1 BC036552 mRNA Translation: AAH36552.1 M70434 mRNA Translation: AAA52512.1 M55574 mRNA Translation: AAA72938.1 |
CCDSi | CCDS2239.1 [Q99259-1] CCDS2240.1 [Q99259-3] |
PIRi | B41935 S48135 S51775 S51776 |
RefSeqi | NP_000808.2, NM_000817.2 [Q99259-1] NP_038473.2, NM_013445.3 [Q99259-3] XP_005246501.1, XM_005246444.2 [Q99259-3] XP_011509224.1, XM_011510922.1 [Q99259-1] XP_016859245.1, XM_017003756.1 [Q99259-1] XP_016859247.1, XM_017003758.1 [Q99259-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2OKJ | X-ray | 2.30 | A/B | 93-594 | [»] | |
3VP6 | X-ray | 2.10 | A/B | 90-594 | [»] | |
SMRi | Q99259 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108845, 17 interactors |
ComplexPortali | CPX-3032, Glutamate decarboxylase 1 complex CPX-3065, Glutamate decarboxylase 1/2 complex |
DIPi | DIP-29292N |
IntActi | Q99259, 11 interactors |
MINTi | Q99259 |
STRINGi | 9606.ENSP00000350928 |
Chemistry databases
ChEMBLi | CHEMBL2614 |
DrugBanki | DB00142, Glutamic acid DB00114, Pyridoxal phosphate |
PTM databases
iPTMneti | Q99259 |
PhosphoSitePlusi | Q99259 |
Polymorphism and mutation databases
BioMutai | GAD1 |
DMDMi | 1352213 |
Proteomic databases
EPDi | Q99259 |
MassIVEi | Q99259 |
PaxDbi | Q99259 |
PeptideAtlasi | Q99259 |
PRIDEi | Q99259 |
ProteomicsDBi | 62052 78255 [Q99259-1] 78256 [Q99259-3] |
Protocols and materials databases
ABCDi | Q99259, 3 sequenced antibodies |
Antibodypediai | 3831, 725 antibodies |
DNASUi | 2571 |
Genome annotation databases
Ensembli | ENST00000344257; ENSP00000341167; ENSG00000128683 [Q99259-3] ENST00000358196; ENSP00000350928; ENSG00000128683 [Q99259-1] ENST00000375272; ENSP00000364421; ENSG00000128683 [Q99259-3] ENST00000493875; ENSP00000434696; ENSG00000128683 [Q99259-4] ENST00000625689; ENSP00000486612; ENSG00000128683 [Q99259-4] |
GeneIDi | 2571 |
KEGGi | hsa:2571 |
UCSCi | uc002ugh.4, human [Q99259-1] |
Organism-specific databases
CTDi | 2571 |
DisGeNETi | 2571 |
EuPathDBi | HostDB:ENSG00000128683.13 |
GeneCardsi | GAD1 |
HGNCi | HGNC:4092, GAD1 |
HPAi | ENSG00000128683, Tissue enriched (brain) |
MalaCardsi | GAD1 |
MIMi | 603513, phenotype 605363, gene |
neXtProti | NX_Q99259 |
OpenTargetsi | ENSG00000128683 |
Orphaneti | 210141, Inherited congenital spastic tetraplegia |
PharmGKBi | PA28507 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0629, Eukaryota |
GeneTreei | ENSGT00940000155526 |
HOGENOMi | CLU_011856_0_0_1 |
InParanoidi | Q99259 |
OMAi | RHATYHA |
PhylomeDBi | Q99259 |
TreeFami | TF314688 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05215-MONOMER |
BRENDAi | 4.1.1.15, 2681 |
PathwayCommonsi | Q99259 |
Reactomei | R-HSA-888568, GABA synthesis R-HSA-888590, GABA synthesis, release, reuptake and degradation R-HSA-9022927, MECP2 regulates transcription of genes involved in GABA signaling |
SIGNORi | Q99259 |
Miscellaneous databases
BioGRID-ORCSi | 2571, 3 hits in 845 CRISPR screens |
ChiTaRSi | GAD1, human |
EvolutionaryTracei | Q99259 |
GenomeRNAii | 2571 |
Pharosi | Q99259, Tbio |
PROi | PR:Q99259 |
RNActi | Q99259, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000128683, Expressed in middle temporal gyrus and 170 other tissues |
ExpressionAtlasi | Q99259, baseline and differential |
Genevisiblei | Q99259, HS |
Family and domain databases
Gene3Di | 3.40.640.10, 1 hit |
InterProi | View protein in InterPro IPR002129, PyrdxlP-dep_de-COase IPR015424, PyrdxlP-dep_Trfase IPR015421, PyrdxlP-dep_Trfase_major IPR021115, Pyridoxal-P_BS |
Pfami | View protein in Pfam PF00282, Pyridoxal_deC, 1 hit |
SUPFAMi | SSF53383, SSF53383, 1 hit |
PROSITEi | View protein in PROSITE PS00392, DDC_GAD_HDC_YDC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DCE1_HUMAN | |
Accessioni | Q99259Primary (citable) accession number: Q99259 Secondary accession number(s): Q49AK1 Q9UHH4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | February 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 197 of the entry and version 1 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 - UniProtKB entry view manual
User manual for the UniProtKB entry view - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations