UniProtKB - Q15437 (SC23B_HUMAN)
Protein
Protein transport protein Sec23B
Gene
SEC23B
Organism
Homo sapiens (Human)
Status
Functioni
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex.By similarity
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 61 | ZincBy similarity | 1 | |
Metal bindingi | 66 | ZincBy similarity | 1 | |
Metal bindingi | 85 | ZincBy similarity | 1 | |
Metal bindingi | 88 | ZincBy similarity | 1 |
GO - Molecular functioni
- GTPase activator activity Source: GO_Central
- zinc ion binding Source: InterPro
GO - Biological processi
- COPII-coated vesicle cargo loading Source: GO_Central
- intracellular protein transport Source: InterPro
Keywordsi
Biological process | ER-Golgi transport, Protein transport, Transport |
Ligand | Metal-binding, Zinc |
Names & Taxonomyi
Protein namesi | Recommended name: Protein transport protein Sec23BCuratedShort name: hSec23B1 Publication Alternative name(s): SEC23-related protein B |
Gene namesi | Name:SEC23BImported |
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:10702 SEC23B |
MIMi | 610512 gene |
neXtProti | NX_Q15437 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Cytosol
- cytosol By similarity
Other locations
- COPII-coated vesicle membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Cytosol
- cytosol Source: UniProtKB-SubCell
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum exit site Source: GO_Central
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Golgi apparatus
- Golgi membrane Source: GOC
Other locations
- COPII vesicle coat Source: GO_Central
- endomembrane system Source: MGI
- perinuclear region of cytoplasm Source: Ensembl
Keywords - Cellular componenti
Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Cowden syndrome 7 (CWS7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076424 | 164 | V → L in CWS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs36023150EnsemblClinVar. | 1 | |
Natural variantiVAR_076425 | 594 | V → G in CWS7; aberrant aggregation; causes mislocalization of the protein in the cytoplasm; reduces interaction with SAR1A; confers endoplasmic reticulum (ER) stress-mediated cell growth advantage. 1 PublicationCorresponds to variant dbSNP:rs752366963EnsemblClinVar. | 1 |
Anemia, congenital dyserythropoietic, 2 (CDAN2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062294 | 14 | R → W in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs121918222EnsemblClinVar. | 1 | |
Natural variantiVAR_062296 | 109 | E → K in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs121918221EnsemblClinVar. | 1 | |
Natural variantiVAR_062300 | 348 | D → A in CDAN2. 1 Publication | 1 | |
Natural variantiVAR_062305 | 497 | R → C in CDAN2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs727504145EnsemblClinVar. | 1 | |
Natural variantiVAR_062307 | 530 | R → W in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs121918223EnsemblClinVar. | 1 | |
Natural variantiVAR_062308 | 603 | S → L in CDAN2. 1 Publication | 1 | |
Natural variantiVAR_062309 | 701 | R → C in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs201270568Ensembl. | 1 |
Keywords - Diseasei
Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemiaOrganism-specific databases
DisGeNETi | 10483 |
MalaCardsi | SEC23B |
MIMi | 224100 phenotype 616858 phenotype |
OpenTargetsi | ENSG00000101310 |
Orphaneti | 98873 Congenital dyserythropoietic anemia type II 201 Cowden syndrome |
PharmGKBi | PA35625 |
Miscellaneous databases
Pharosi | Q15437 |
Polymorphism and mutation databases
BioMutai | SEC23B |
DMDMi | 20141794 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000205148 | 2 – 767 | Protein transport protein Sec23BAdd BLAST | 766 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 564 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q15437 |
jPOSTi | Q15437 |
MassIVEi | Q15437 |
MaxQBi | Q15437 |
PaxDbi | Q15437 |
PeptideAtlasi | Q15437 |
PRIDEi | Q15437 |
ProteomicsDBi | 60596 |
PTM databases
iPTMneti | Q15437 |
PhosphoSitePlusi | Q15437 |
Expressioni
Tissue specificityi
Ubiquitously expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000101310 Expressed in 225 organ(s), highest expression level in adrenal gland |
ExpressionAtlasi | Q15437 baseline and differential |
Genevisiblei | Q15437 HS |
Organism-specific databases
HPAi | HPA008216 HPA069974 |
Interactioni
Subunit structurei
COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (By similarity).
Interacts with SAR1A (PubMed:26522472).
By similarity1 PublicationBinary interactionsi
Protein-protein interaction databases
BioGridi | 115746, 116 interactors |
IntActi | Q15437, 36 interactors |
MINTi | Q15437 |
STRINGi | 9606.ENSP00000338844 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 634 – 720 | Gelsolin-likeSequence analysisAdd BLAST | 87 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1986 Eukaryota COG5047 LUCA |
GeneTreei | ENSGT00390000006916 |
InParanoidi | Q15437 |
KOi | K14006 |
OMAi | PWNIIPV |
OrthoDBi | 270617at2759 |
PhylomeDBi | Q15437 |
TreeFami | TF300693 |
Family and domain databases
CDDi | cd11287 Sec23_C, 1 hit |
Gene3Di | 3.40.20.10, 1 hit 3.40.50.410, 1 hit |
InterProi | View protein in InterPro IPR029006 ADF-H/Gelsolin-like_dom_sf IPR007123 Gelsolin-like_dom IPR036180 Gelsolin-like_dom_sf IPR037364 Sec23 IPR006900 Sec23/24_helical_dom IPR036175 Sec23/24_helical_dom_sf IPR006896 Sec23/24_trunk_dom IPR012990 Sec23_24_beta_S IPR037550 Sec23_C IPR036465 vWFA_dom_sf IPR006895 Znf_Sec23_Sec24 IPR036174 Znf_Sec23_Sec24_sf |
PANTHERi | PTHR11141 PTHR11141, 1 hit |
Pfami | View protein in Pfam PF00626 Gelsolin, 1 hit PF08033 Sec23_BS, 1 hit PF04815 Sec23_helical, 1 hit PF04811 Sec23_trunk, 1 hit PF04810 zf-Sec23_Sec24, 1 hit |
SUPFAMi | SSF53300 SSF53300, 1 hit SSF81811 SSF81811, 1 hit SSF82754 SSF82754, 1 hit SSF82919 SSF82919, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All
Q15437-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MATYLEFIQQ NEERDGVRFS WNVWPSSRLE ATRMVVPLAC LLTPLKERPD
60 70 80 90 100
LPPVQYEPVL CSRPTCKAVL NPLCQVDYRA KLWACNFCFQ RNQFPPAYGG
110 120 130 140 150
ISEVNQPAEL MPQFSTIEYV IQRGAQSPLI FLYVVDTCLE EDDLQALKES
160 170 180 190 200
LQMSLSLLPP DALVGLITFG RMVQVHELSC EGISKSYVFR GTKDLTAKQI
210 220 230 240 250
QDMLGLTKPA MPMQQARPAQ PQEHPFASSR FLQPVHKIDM NLTDLLGELQ
260 270 280 290 300
RDPWPVTQGK RPLRSTGVAL SIAVGLLEGT FPNTGARIML FTGGPPTQGP
310 320 330 340 350
GMVVGDELKI PIRSWHDIEK DNARFMKKAT KHYEMLANRT AANGHCIDIY
360 370 380 390 400
ACALDQTGLL EMKCCANLTG GYMVMGDSFN TSLFKQTFQR IFTKDFNGDF
410 420 430 440 450
RMAFGATLDV KTSRELKIAG AIGPCVSLNV KGPCVSENEL GVGGTSQWKI
460 470 480 490 500
CGLDPTSTLG IYFEVVNQHN TPIPQGGRGA IQFVTHYQHS STQRRIRVTT
510 520 530 540 550
IARNWADVQS QLRHIEAAFD QEAAAVLMAR LGVFRAESEE GPDVLRWLDR
560 570 580 590 600
QLIRLCQKFG QYNKEDPTSF RLSDSFSLYP QFMFHLRRSP FLQVFNNSPD
610 620 630 640 650
ESSYYRHHFA RQDLTQSLIM IQPILYSYSF HGPPEPVLLD SSSILADRIL
660 670 680 690 700
LMDTFFQIVI YLGETIAQWR KAGYQDMPEY ENFKHLLQAP LDDAQEILQA
710 720 730 740 750
RFPMPRYINT EHGGSQARFL LSKVNPSQTH NNLYAWGQET GAPILTDDVS
760
LQVFMDHLKK LAVSSAC
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8YFH5 | A0A2R8YFH5_HUMAN | Protein transport protein SEC23 | SEC23B | 749 | Annotation score: | ||
Q5QPE1 | Q5QPE1_HUMAN | Protein transport protein SEC23 | SEC23B | 246 | Annotation score: | ||
Q5QPE2 | Q5QPE2_HUMAN | Protein transport protein SEC23 | SEC23B | 331 | Annotation score: | ||
A0A2R8Y633 | A0A2R8Y633_HUMAN | Protein transport protein SEC23 | SEC23B | 52 | Annotation score: | ||
A0A2R8Y7S7 | A0A2R8Y7S7_HUMAN | Protein transport protein SEC23 | SEC23B | 59 | Annotation score: | ||
A0A2R8YF30 | A0A2R8YF30_HUMAN | Protein transport protein SEC23 | SEC23B | 32 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062294 | 14 | R → W in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs121918222EnsemblClinVar. | 1 | |
Natural variantiVAR_062295 | 18 | R → H1 PublicationCorresponds to variant dbSNP:rs905074313Ensembl. | 1 | |
Natural variantiVAR_062296 | 109 | E → K in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs121918221EnsemblClinVar. | 1 | |
Natural variantiVAR_076424 | 164 | V → L in CWS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs36023150EnsemblClinVar. | 1 | |
Natural variantiVAR_062297 | 239 | D → G The mutant protein is expressed as the wild-type. 1 PublicationCorresponds to variant dbSNP:rs761034212Ensembl. | 1 | |
Natural variantiVAR_062298 | 313 | R → H1 PublicationCorresponds to variant dbSNP:rs750888081Ensembl. | 1 | |
Natural variantiVAR_062299 | 318 | I → T1 PublicationCorresponds to variant dbSNP:rs953079477Ensembl. | 1 | |
Natural variantiVAR_062300 | 348 | D → A in CDAN2. 1 Publication | 1 | |
Natural variantiVAR_062301 | 373 | M → V1 PublicationCorresponds to variant dbSNP:rs17849992Ensembl. | 1 | |
Natural variantiVAR_062302 | 386 | Q → R1 Publication | 1 | |
Natural variantiVAR_062303 | 426 | V → I1 PublicationCorresponds to variant dbSNP:rs41309927EnsemblClinVar. | 1 | |
Natural variantiVAR_034482 | 433 | P → L1 PublicationCorresponds to variant dbSNP:rs17807673EnsemblClinVar. | 1 | |
Natural variantiVAR_062304 | 462 | Y → C1 PublicationCorresponds to variant dbSNP:rs780978419Ensembl. | 1 | |
Natural variantiVAR_020318 | 489 | H → Q2 PublicationsCorresponds to variant dbSNP:rs2273526EnsemblClinVar. | 1 | |
Natural variantiVAR_062305 | 497 | R → C in CDAN2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs727504145EnsemblClinVar. | 1 | |
Natural variantiVAR_062306 | 524 | A → V1 PublicationCorresponds to variant dbSNP:rs398124225EnsemblClinVar. | 1 | |
Natural variantiVAR_062307 | 530 | R → W in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs121918223EnsemblClinVar. | 1 | |
Natural variantiVAR_076425 | 594 | V → G in CWS7; aberrant aggregation; causes mislocalization of the protein in the cytoplasm; reduces interaction with SAR1A; confers endoplasmic reticulum (ER) stress-mediated cell growth advantage. 1 PublicationCorresponds to variant dbSNP:rs752366963EnsemblClinVar. | 1 | |
Natural variantiVAR_062308 | 603 | S → L in CDAN2. 1 Publication | 1 | |
Natural variantiVAR_062309 | 701 | R → C in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs201270568Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X97065 mRNA Translation: CAA65775.1 AL121893 Genomic DNA No translation available. AL121900 Genomic DNA No translation available. CH471133 Genomic DNA Translation: EAX10231.1 CH471133 Genomic DNA Translation: EAX10232.1 CH471133 Genomic DNA Translation: EAX10233.1 CH471133 Genomic DNA Translation: EAX10234.1 CH471133 Genomic DNA Translation: EAX10235.1 BC005032 mRNA Translation: AAH05032.1 BC005404 mRNA Translation: AAH05404.1 BC095404 mRNA Translation: AAH95404.1 |
CCDSi | CCDS13137.1 |
RefSeqi | NP_001166216.1, NM_001172745.1 NP_006354.2, NM_006363.4 NP_116780.1, NM_032985.4 NP_116781.1, NM_032986.3 XP_016883082.1, XM_017027593.1 |
Genome annotation databases
Ensembli | ENST00000262544; ENSP00000262544; ENSG00000101310 ENST00000336714; ENSP00000338844; ENSG00000101310 ENST00000377465; ENSP00000366685; ENSG00000101310 ENST00000650089; ENSP00000497473; ENSG00000101310 |
GeneIDi | 10483 |
KEGGi | hsa:10483 |
UCSCi | uc002wqz.3 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X97065 mRNA Translation: CAA65775.1 AL121893 Genomic DNA No translation available. AL121900 Genomic DNA No translation available. CH471133 Genomic DNA Translation: EAX10231.1 CH471133 Genomic DNA Translation: EAX10232.1 CH471133 Genomic DNA Translation: EAX10233.1 CH471133 Genomic DNA Translation: EAX10234.1 CH471133 Genomic DNA Translation: EAX10235.1 BC005032 mRNA Translation: AAH05032.1 BC005404 mRNA Translation: AAH05404.1 BC095404 mRNA Translation: AAH95404.1 |
CCDSi | CCDS13137.1 |
RefSeqi | NP_001166216.1, NM_001172745.1 NP_006354.2, NM_006363.4 NP_116780.1, NM_032985.4 NP_116781.1, NM_032986.3 XP_016883082.1, XM_017027593.1 |
3D structure databases
SMRi | Q15437 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 115746, 116 interactors |
IntActi | Q15437, 36 interactors |
MINTi | Q15437 |
STRINGi | 9606.ENSP00000338844 |
PTM databases
iPTMneti | Q15437 |
PhosphoSitePlusi | Q15437 |
Polymorphism and mutation databases
BioMutai | SEC23B |
DMDMi | 20141794 |
Proteomic databases
EPDi | Q15437 |
jPOSTi | Q15437 |
MassIVEi | Q15437 |
MaxQBi | Q15437 |
PaxDbi | Q15437 |
PeptideAtlasi | Q15437 |
PRIDEi | Q15437 |
ProteomicsDBi | 60596 |
Protocols and materials databases
DNASUi | 10483 |
Genome annotation databases
Ensembli | ENST00000262544; ENSP00000262544; ENSG00000101310 ENST00000336714; ENSP00000338844; ENSG00000101310 ENST00000377465; ENSP00000366685; ENSG00000101310 ENST00000650089; ENSP00000497473; ENSG00000101310 |
GeneIDi | 10483 |
KEGGi | hsa:10483 |
UCSCi | uc002wqz.3 human |
Organism-specific databases
CTDi | 10483 |
DisGeNETi | 10483 |
GeneCardsi | SEC23B |
HGNCi | HGNC:10702 SEC23B |
HPAi | HPA008216 HPA069974 |
MalaCardsi | SEC23B |
MIMi | 224100 phenotype 610512 gene 616858 phenotype |
neXtProti | NX_Q15437 |
OpenTargetsi | ENSG00000101310 |
Orphaneti | 98873 Congenital dyserythropoietic anemia type II 201 Cowden syndrome |
PharmGKBi | PA35625 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1986 Eukaryota COG5047 LUCA |
GeneTreei | ENSGT00390000006916 |
InParanoidi | Q15437 |
KOi | K14006 |
OMAi | PWNIIPV |
OrthoDBi | 270617at2759 |
PhylomeDBi | Q15437 |
TreeFami | TF300693 |
Miscellaneous databases
ChiTaRSi | SEC23B human |
GeneWikii | SEC23B |
GenomeRNAii | 10483 |
Pharosi | Q15437 |
PROi | PR:Q15437 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000101310 Expressed in 225 organ(s), highest expression level in adrenal gland |
ExpressionAtlasi | Q15437 baseline and differential |
Genevisiblei | Q15437 HS |
Family and domain databases
CDDi | cd11287 Sec23_C, 1 hit |
Gene3Di | 3.40.20.10, 1 hit 3.40.50.410, 1 hit |
InterProi | View protein in InterPro IPR029006 ADF-H/Gelsolin-like_dom_sf IPR007123 Gelsolin-like_dom IPR036180 Gelsolin-like_dom_sf IPR037364 Sec23 IPR006900 Sec23/24_helical_dom IPR036175 Sec23/24_helical_dom_sf IPR006896 Sec23/24_trunk_dom IPR012990 Sec23_24_beta_S IPR037550 Sec23_C IPR036465 vWFA_dom_sf IPR006895 Znf_Sec23_Sec24 IPR036174 Znf_Sec23_Sec24_sf |
PANTHERi | PTHR11141 PTHR11141, 1 hit |
Pfami | View protein in Pfam PF00626 Gelsolin, 1 hit PF08033 Sec23_BS, 1 hit PF04815 Sec23_helical, 1 hit PF04811 Sec23_trunk, 1 hit PF04810 zf-Sec23_Sec24, 1 hit |
SUPFAMi | SSF53300 SSF53300, 1 hit SSF81811 SSF81811, 1 hit SSF82754 SSF82754, 1 hit SSF82919 SSF82919, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SC23B_HUMAN | |
Accessioni | Q15437Primary (citable) accession number: Q15437 Secondary accession number(s): D3DW33 Q9H1D7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | January 23, 2002 | |
Last modified: | November 13, 2019 | |
This is version 180 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
Complete proteome, Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - 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