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P50443 (S26A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sulfate transporter
Alternative name(s):
Diastrophic dysplasia protein
Solute carrier family 26 member 2
Gene names
Name:SLC26A2
Synonyms:DTD, DTDST
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length739 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Sulfate transporter. May play a role in endochondral bone formation.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Ubiquitously expressed.

Involvement in disease

Diastrophic dysplasia (DTD) [MIM:222600]: An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Achondrogenesis 1B (ACG1B) [MIM:600972]: A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Atelosteogenesis 2 (AO2) [MIM:256050]: A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12

Sequence similarities

Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. [View classification]

Contains 1 STAS domain.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Dwarfism
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_process3'-phosphoadenosine 5'-phosphosulfate biosynthetic process

Traceable author statement. Source: Reactome

3'-phosphoadenosine 5'-phosphosulfate metabolic process

Traceable author statement. Source: Reactome

carbohydrate metabolic process

Traceable author statement. Source: Reactome

glycosaminoglycan metabolic process

Traceable author statement. Source: Reactome

ion transport

Traceable author statement. Source: Reactome

ossification

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

sulfate transmembrane transport

Traceable author statement Ref.1. Source: GOC

sulfate transport

Traceable author statement Ref.1. Source: ProtInc

transmembrane transport

Traceable author statement. Source: Reactome

xenobiotic metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentintegral component of plasma membrane

Traceable author statement Ref.8. Source: ProtInc

membrane

Traceable author statement Ref.8. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionsecondary active sulfate transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

sulfate transmembrane transporter activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 739739Sulfate transporter
PRO_0000080158

Regions

Topological domain1 – 111111Cytoplasmic Potential
Transmembrane112 – 13221Helical; Potential
Topological domain133 – 1364Extracellular Potential
Transmembrane137 – 15721Helical; Potential
Topological domain158 – 1592Cytoplasmic Potential
Transmembrane160 – 18021Helical; Potential
Topological domain181 – 21838Extracellular Potential
Transmembrane219 – 23921Helical; Potential
Topological domain240 – 2412Cytoplasmic Potential
Transmembrane242 – 26221Helical; Potential
Topological domain263 – 29634Extracellular Potential
Transmembrane297 – 31721Helical; Potential
Topological domain318 – 32811Cytoplasmic Potential
Transmembrane329 – 34921Helical; Potential
Topological domain350 – 37728Extracellular Potential
Transmembrane378 – 39821Helical; Potential
Topological domain399 – 42022Cytoplasmic Potential
Transmembrane421 – 44121Helical; Potential
Topological domain442 – 45413Extracellular Potential
Transmembrane455 – 47521Helical; Potential
Topological domain476 – 52348Cytoplasmic Potential
Transmembrane524 – 54421Helical; Potential
Topological domain545 – 64399Extracellular Potential
Transmembrane644 – 66421Helical; Potential
Topological domain665 – 73975Cytoplasmic Potential
Domain568 – 719152STAS

Amino acid modifications

Modified residue121Phosphoserine Ref.7
Modified residue161Phosphoserine Ref.7
Glycosylation1991N-linked (GlcNAc...) Potential
Glycosylation2051N-linked (GlcNAc...) Potential
Glycosylation3571N-linked (GlcNAc...) Potential

Natural variations

Natural variant2551G → E in AO2. Ref.9
VAR_007434
Natural variant2561F → S in EDM4. Ref.12
VAR_066835
Natural variant2791R → W in AO2 and EDM4. Ref.9 Ref.12
Corresponds to variant rs104893915 [ dbSNP | Ensembl ].
VAR_007435
Natural variant3401Missing in ACG1B. Ref.8
VAR_007436
Natural variant4251N → D in ACG1B. Ref.8
VAR_007437
Natural variant4541Q → P in diatrophic dysplasia; broad bone-platyspondylic variant. Ref.10
VAR_018654
Natural variant5741I → T. Ref.1 Ref.2 Ref.5
Corresponds to variant rs30832 [ dbSNP | Ensembl ].
VAR_058415
Natural variant6531C → S in EDM4. Ref.11 Ref.12
VAR_018655
Natural variant6781G → V in ACG1B. Ref.8
VAR_007438
Natural variant6891T → S.
Corresponds to variant rs3776070 [ dbSNP | Ensembl ].
VAR_020402
Natural variant7151A → V in AO2 and EDM4. Ref.9 Ref.12
VAR_007439

Experimental info

Sequence conflict6191R → G in CAE45819. Ref.6
Sequence conflict6221K → R in BAG35488. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P50443 [UniParc].

Last modified July 28, 2009. Version 2.
Checksum: 577984D0E973087F

FASTA73981,662
        10         20         30         40         50         60 
MSSESKEQHN VSPRDSAEGN DSYPSGIHLE LQRESSTDFK QFETNDQCRP YHRILIERQE 

        70         80         90        100        110        120 
KSDTNFKEFV IKKLQKNCQC SPAKAKNMIL GFLPVLQWLP KYDLKKNILG DVMSGLIVGI 

       130        140        150        160        170        180 
LLVPQSIAYS LLAGQEPVYG LYTSFFASII YFLLGTSRHI SVGIFGVLCL MIGETVDREL 

       190        200        210        220        230        240 
QKAGYDNAHS APSLGMVSNG STLLNHTSDR ICDKSCYAIM VGSTVTFIAG VYQVAMGFFQ 

       250        260        270        280        290        300 
VGFVSVYLSD ALLSGFVTGA SFTILTSQAK YLLGLNLPRT NGVGSLITTW IHVFRNIHKT 

       310        320        330        340        350        360 
NLCDLITSLL CLLVLLPTKE LNEHFKSKLK APIPIELVVV VAATLASHFG KLHENYNSSI 

       370        380        390        400        410        420 
AGHIPTGFMP PKVPEWNLIP SVAVDAIAIS IIGFAITVSL SEMFAKKHGY TVKANQEMYA 

       430        440        450        460        470        480 
IGFCNIIPSF FHCFTTSAAL AKTLVKESTG CHTQLSGVVT ALVLLLVLLV IAPLFYSLQK 

       490        500        510        520        530        540 
SVLGVITIVN LRGALRKFRD LPKMWSISRM DTVIWFVTML SSALLSTEIG LLVGVCFSIF 

       550        560        570        580        590        600 
CVILRTQKPK SSLLGLVEES EVFESVSAYK NLQIKPGIKI FRFVAPLYYI NKECFKSALY 

       610        620        630        640        650        660 
KQTVNPILIK VAWKKAAKRK IKEKVVTLGG IQDEMSVQLS HDPLELHTIV IDCSAIQFLD 

       670        680        690        700        710        720 
TAGIHTLKEV RRDYEAIGIQ VLLAQCNPTV RDSLTNGEYC KKEEENLLFY SVYEAMAFAE 

       730 
VSKNQKGVCV PNGLSLSSD 

« Hide

References

« Hide 'large scale' references
[1]"The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping."
Haestbacka J., de la Chapelle A., Mahtani M.M., Clines G., Reeve-Daly M.P., Daly M., Hamilton B.A., Kusumi K., Trivedi B., Weaver A., Coloma A., Lovett M., Buckler A., Kaitila I., Lander E.S.
Cell 78:1073-1087(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-574.
Tissue: Brain.
[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. expand/collapse author list , 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], VARIANT THR-574.
Tissue: Tongue.
[3]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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], VARIANT THR-574.
Tissue: Placenta.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 614-739.
Tissue: Prostate.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-16, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene."
Superti-Furga A., Haestbacka J., Wilcox W.R., Cohn D.H., van der Harten H.J., Rossi A., Blau N., Rimoin D.L., Steinmann B., Lander E.S., Gitzelmann R.
Nat. Genet. 12:100-102(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ACG1B VAL-340 DEL; ASP-425 AND VAL-678.
[9]"Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias."
Haestbacka J., Superti-Furga A., Wilcox W.R., Rimoin D.L., Cohn D.H., Lander E.S.
Am. J. Hum. Genet. 58:255-262(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AO2 GLU-255; TRP-279 AND VAL-715.
[10]"Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia."
Megarbane A., Haddad F.A., Haddad-Zebouni S., Achram M., Eich G., Le Merrer M., Superti-Furga A.
Clin. Genet. 56:71-76(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DIATROPHIC DYSPLASIA PRO-454.
[11]"Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign."
Maekitie O., Savarirayan R., Bonafe L., Robertson S., Susic M., Superti-Furga A., Cole W.G.
Am. J. Med. Genet. A 122:187-192(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EDM4 SER-653.
[12]"Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution."
Jackson G.C., Mittaz-Crettol L., Taylor J.A., Mortier G.R., Spranger J., Zabel B., Le Merrer M., Cormier-Daire V., Hall C.M., Offiah A., Wright M.J., Savarirayan R., Nishimura G., Ramsden S.C., Elles R., Bonafe L., Superti-Furga A., Unger S., Zankl A., Briggs M.D.
Hum. Mutat. 33:144-157(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDM4 SER-256; TRP-279; SER-653 AND VAL-715.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U14528 mRNA. Translation: AAA70081.1.
AK290358 mRNA. Translation: BAF83047.1.
AK312596 mRNA. Translation: BAG35488.1.
AC008427 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW61755.1.
BC059390 mRNA. Translation: AAH59390.1.
BX640696 mRNA. Translation: CAE45819.1.
PIRA54808.
RefSeqNP_000103.2. NM_000112.3.
UniGeneHs.302738.

3D structure databases

ProteinModelPortalP50443.
SMRP50443. Positions 549-723.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108169. 3 interactions.
MINTMINT-5001062.
STRING9606.ENSP00000286298.

Protein family/group databases

TCDB2.A.53.2.1. the sulfate permease (sulp) family.

PTM databases

PhosphoSiteP50443.

Polymorphism databases

DMDM254763328.

Proteomic databases

PaxDbP50443.
PRIDEP50443.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286298; ENSP00000286298; ENSG00000155850.
GeneID1836.
KEGGhsa:1836.
UCSCuc003lrh.3. human.

Organism-specific databases

CTD1836.
GeneCardsGC05P149320.
H-InvDBHIX0005307.
HGNCHGNC:10994. SLC26A2.
HPAHPA041957.
MIM222600. phenotype.
226900. phenotype.
256050. phenotype.
600972. phenotype.
606718. gene.
neXtProtNX_P50443.
Orphanet93298. Achondrogenesis type 1B.
56304. Atelosteogenesis type II.
628. Diastrophic dwarfism.
93307. Multiple epiphyseal dysplasia type 4.
PharmGKBPA149.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0659.
HOGENOMHOG000006546.
HOVERGENHBG000639.
InParanoidP50443.
KOK14701.
OMASCYAIKV.
OrthoDBEOG76T9QT.
PhylomeDBP50443.
TreeFamTF313784.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP50443.
BgeeP50443.
CleanExHS_SLC26A2.
GenevestigatorP50443.

Family and domain databases

Gene3D3.30.750.24. 2 hits.
InterProIPR018045. S04_transporter_CS.
IPR002645. STAS_dom.
IPR001902. SulP_transpt.
IPR011547. Sulph_transpt.
[Graphical view]
PfamPF01740. STAS. 1 hit.
PF00916. Sulfate_transp. 1 hit.
[Graphical view]
SUPFAMSSF52091. SSF52091. 2 hits.
TIGRFAMsTIGR00815. sulP. 1 hit.
PROSITEPS01130. SLC26A. 1 hit.
PS50801. STAS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC26A2. human.
GeneWikiSLC26A2.
GenomeRNAi1836.
NextBio7495.
PROP50443.
SOURCESearch...

Entry information

Entry nameS26A2_HUMAN
AccessionPrimary (citable) accession number: P50443
Secondary accession number(s): A8K2U3, B2R6J1, Q6N051
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 28, 2009
Last modified: April 16, 2014
This is version 143 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM