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P18433 (PTPRA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 161. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Receptor-type tyrosine-protein phosphatase alpha

Short name=Protein-tyrosine phosphatase alpha
Short name=R-PTP-alpha
EC=3.1.3.48
Gene names
Name:PTPRA
Synonyms:PTPA, PTPRL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length802 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

Protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

Subcellular location

Membrane; Single-pass type I membrane protein.

Sequence similarities

Belongs to the protein-tyrosine phosphatase family. Receptor class 4 subfamily.

Contains 2 tyrosine-protein phosphatase domains.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CNTN1P147813EBI-2609645,EBI-2123196From a different organism.
FynP396882EBI-2609645,EBI-524514From a different organism.
GRB2P629938EBI-2609645,EBI-401755
SRCP005234EBI-2609645,EBI-848039From a different organism.
SRCP129314EBI-2609645,EBI-621482

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P18433-1)

Also known as: Long;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P18433-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     139-147: Missing.
Isoform 3 (identifier: P18433-3)

The sequence of this isoform differs from the canonical sequence as follows:
     138-138: S → SGNSDSKDRR
     179-187: Missing.
Isoform 4 (identifier: P18433-4)

The sequence of this isoform differs from the canonical sequence as follows:
     179-187: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 802783Receptor-type tyrosine-protein phosphatase alpha
PRO_0000025433

Regions

Topological domain20 – 142123Extracellular Potential
Transmembrane143 – 16523Helical; Potential
Topological domain166 – 802637Cytoplasmic Potential
Domain241 – 501261Tyrosine-protein phosphatase 1
Domain533 – 791259Tyrosine-protein phosphatase 2
Region442 – 4487Substrate binding By similarity

Sites

Active site4421Phosphocysteine intermediate By similarity
Active site7321Phosphocysteine intermediate By similarity
Binding site4101Substrate By similarity
Binding site4861Substrate By similarity

Amino acid modifications

Modified residue2111Phosphoserine By similarity
Modified residue2131Phosphoserine By similarity
Modified residue7981Phosphotyrosine Ref.13 Ref.14
Glycosylation211N-linked (GlcNAc...) Potential
Glycosylation361N-linked (GlcNAc...) Potential
Glycosylation681N-linked (GlcNAc...) Potential
Glycosylation801N-linked (GlcNAc...) Potential
Glycosylation861N-linked (GlcNAc...) Potential
Glycosylation1041N-linked (GlcNAc...) Potential
Glycosylation1241N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1381S → SGNSDSKDRR in isoform 3.
VSP_007776
Alternative sequence139 – 1479Missing in isoform 2.
VSP_005145
Alternative sequence179 – 1879Missing in isoform 3 and isoform 4.
VSP_007777
Natural variant1091P → L.
Corresponds to variant rs1178027 [ dbSNP | Ensembl ].
VAR_057134

Experimental info

Sequence conflict1141T → M in CAA38662. Ref.4
Sequence conflict1221E → P in CAA37447. Ref.5
Sequence conflict2891G → E in CAA38662. Ref.4
Sequence conflict3671V → A in CAA38662. Ref.4
Sequence conflict4931F → S in CAA38662. Ref.4
Sequence conflict7861K → E in CAA38662. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified November 1, 1991. Version 2.
Checksum: 8E964C3B56B5BE32

FASTA80290,600
        10         20         30         40         50         60 
MDSWFILVLL GSGLICVSAN NATTVAPSVG ITRLINSSTA EPVKEEAKTS NPTSSLTSLS 

        70         80         90        100        110        120 
VAPTFSPNIT LGPTYLTTVN SSDSDNGTTR TASTNSIGIT ISPNGTWLPD NQFTDARTEP 

       130        140        150        160        170        180 
WEGNSSTAAT TPETFPPSDE TPIIAVMVAL SSLLVIVFII IVLYMLRFKK YKQAGSHSNS 

       190        200        210        220        230        240 
KQAGSHSNSF RLSNGRTEDV EPQSVPLLAR SPSTNRKYPP LPVDKLEEEI NRRMADDNKL 

       250        260        270        280        290        300 
FREEFNALPA CPIQATCEAA SKEENKEKNR YVNILPYDHS RVHLTPVEGV PDSDYINASF 

       310        320        330        340        350        360 
INGYQEKNKF IAAQGPKEET VNDFWRMIWE QNTATIVMVT NLKERKECKC AQYWPDQGCW 

       370        380        390        400        410        420 
TYGNIRVSVE DVTVLVDYTV RKFCIQQVGD MTNRKPQRLI TQFHFTSWPD FGVPFTPIGM 

       430        440        450        460        470        480 
LKFLKKVKAC NPQYAGAIVV HCSAGVGRTG TFVVIDAMLD MMHTERKVDV YGFVSRIRAQ 

       490        500        510        520        530        540 
RCQMVQTDMQ YVFIYQALLE HYLYGDTELE VTSLETHLQK IYNKIPGTSN NGLEEEFKKL 

       550        560        570        580        590        600 
TSIKIQNDKM RTGNLPANMK KNRVLQIIPY EFNRVIIPVK RGEENTDYVN ASFIDGYRQK 

       610        620        630        640        650        660 
DSYIASQGPL LHTIEDFWRM IWEWKSCSIV MLTELEERGQ EKCAQYWPSD GLVSYGDITV 

       670        680        690        700        710        720 
ELKKEEECES YTVRDLLVTN TRENKSRQIR QFHFHGWPEV GIPSDGKGMI SIIAAVQKQQ 

       730        740        750        760        770        780 
QQSGNHPITV HCSAGAGRTG TFCALSTVLE RVKAEGILDV FQTVKSLRLQ RPHMVQTLEQ 

       790        800 
YEFCYKVVQE YIDAFSDYAN FK 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: F49533B2022536E0
Show »

FASTA79389,630
Isoform 3 [UniParc].

Checksum: D1E6A5E86FE4D3F0
Show »

FASTA80290,719
Isoform 4 [UniParc].

Checksum: 487CCC1C06F6E860
Show »

FASTA79389,703

References

« Hide 'large scale' references
[1]"Cloning and expression of a widely expressed receptor tyrosine phosphatase."
Sap J., D'Eustachio P., Givol D., Schlessinger J.
Proc. Natl. Acad. Sci. U.S.A. 87:6112-6116(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Cloning of three human tyrosine phosphatases reveals a multigene family of receptor-linked protein-tyrosine-phosphatases expressed in brain."
Kaplan R., Morse B., Huebner K., Croce C., Howk R., Ravera M., Ricca G., Jaye M., Schlessinger J.
Proc. Natl. Acad. Sci. U.S.A. 87:7000-7004(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[3]"Structural diversity and evolution of human receptor-like protein tyrosine phosphatases."
Krueger N.X., Streuli M., Saito H.
EMBO J. 9:3241-3252(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
[4]"Sequence of a cDNA encoding human LRP (leukocyte common antigen-related peptide)."
Ohagi S., Nishi M., Steiner D.F.
Nucleic Acids Res. 18:7159-7159(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
Tissue: Kidney.
[5]"Cloning and chromosomal assignment of a widely expressed human receptor-like protein-tyrosine phosphatase."
Jirik F.R., Janzen N.M., Melhado I.G., Harder K.W.
FEBS Lett. 273:239-242(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
[6]"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] (ISOFORM 4).
Tissue: Thalamus.
[7]"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] (ISOFORM 4).
Tissue: Lymph node.
[8]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]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].
[10]"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] (ISOFORM 4).
Tissue: Skin.
[11]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-798, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-798, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M34668 mRNA. Translation: AAA36528.1.
X54130 mRNA. Translation: CAA38065.1.
X54890 mRNA. Translation: CAA38662.1.
X53364 mRNA. Translation: CAA37447.1.
AK290233 mRNA. Translation: BAF82922.1.
BX571753 mRNA. Translation: CAE11878.1.
AL121905 Genomic DNA. Translation: CAC10336.1.
AL121905 Genomic DNA. Translation: CAC10337.1.
CH471133 Genomic DNA. Translation: EAX10562.1.
CH471133 Genomic DNA. Translation: EAX10563.1.
BC027308 mRNA. Translation: AAH27308.1.
CCDSCCDS13038.1. [P18433-3]
CCDS13039.1. [P18433-4]
PIRA36065.
RefSeqNP_002827.1. NM_002836.3. [P18433-3]
NP_543030.1. NM_080840.2. [P18433-4]
NP_543031.1. NM_080841.2. [P18433-4]
UniGeneHs.269577.

3D structure databases

ProteinModelPortalP18433.
SMRP18433. Positions 217-794.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111750. 8 interactions.
IntActP18433. 9 interactions.
MINTMINT-138874.
STRING9606.ENSP00000369756.

Chemistry

BindingDBP18433.
ChEMBLCHEMBL3918.

PTM databases

PhosphoSiteP18433.

Polymorphism databases

DMDM126467.

Proteomic databases

MaxQBP18433.
PaxDbP18433.
PRIDEP18433.

Protocols and materials databases

DNASU5786.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000216877; ENSP00000216877; ENSG00000132670. [P18433-4]
ENST00000318266; ENSP00000314568; ENSG00000132670. [P18433-4]
ENST00000356147; ENSP00000348468; ENSG00000132670. [P18433-4]
ENST00000380393; ENSP00000369756; ENSG00000132670. [P18433-3]
ENST00000399903; ENSP00000382787; ENSG00000132670. [P18433-3]
GeneID5786.
KEGGhsa:5786.
UCSCuc002whj.3. human. [P18433-3]
uc002whk.3. human. [P18433-4]
uc002whm.3. human. [P18433-1]

Organism-specific databases

CTD5786.
GeneCardsGC20P002844.
HGNCHGNC:9664. PTPRA.
HPAHPA029412.
MIM176884. gene.
neXtProtNX_P18433.
PharmGKBPA34009.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5599.
HOGENOMHOG000231464.
HOVERGENHBG053758.
InParanoidP18433.
KOK18032.
OrthoDBEOG7B31M8.
PhylomeDBP18433.
TreeFamTF351829.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
SignaLinkP18433.

Gene expression databases

ArrayExpressP18433.
BgeeP18433.
CleanExHS_PTPRA.
GenevestigatorP18433.

Family and domain databases

Gene3D3.90.190.10. 2 hits.
InterProIPR029021. Prot-tyrosine_phosphatase-like.
IPR000387. Tyr/Dual-sp_Pase.
IPR016130. Tyr_Pase_AS.
IPR000242. Tyr_Pase_rcpt/non-rcpt.
IPR016336. Tyr_Pase_rcpt_a/e-type.
IPR027262. Tyr_Pase_rcpt_alpha.
[Graphical view]
PfamPF00102. Y_phosphatase. 2 hits.
[Graphical view]
PIRSFPIRSF500808. PTPR_alpha. 1 hit.
PIRSF002006. PTPR_alpha_epsilon. 1 hit.
PRINTSPR00700. PRTYPHPHTASE.
SMARTSM00194. PTPc. 2 hits.
[Graphical view]
SUPFAMSSF52799. SSF52799. 2 hits.
PROSITEPS00383. TYR_PHOSPHATASE_1. 2 hits.
PS50056. TYR_PHOSPHATASE_2. 2 hits.
PS50055. TYR_PHOSPHATASE_PTP. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPTPRA. human.
GeneWikiPTPRA.
GenomeRNAi5786.
NextBio22506.
PROP18433.
SOURCESearch...

Entry information

Entry namePTPRA_HUMAN
AccessionPrimary (citable) accession number: P18433
Secondary accession number(s): A8K2G8 expand/collapse secondary AC list , D3DVX5, Q14513, Q7Z2I2, Q96TD9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: November 1, 1991
Last modified: July 9, 2014
This is version 161 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 20

Human chromosome 20: entries, gene names and cross-references to MIM