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Q8N6P7 (I22R1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
Interleukin-22 receptor subunit alpha-1

Short name=IL-22 receptor subunit alpha-1
Short name=IL-22R-alpha-1
Short name=IL-22RA1
Alternative name(s):
Cytokine receptor class-II member 9
Cytokine receptor family 2 member 9
Short name=CRF2-9
ZcytoR11
Gene names
Name:IL22RA1
Synonyms:IL22R
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length574 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the receptor for IL20, IL22 and IL24. Component of IL22 receptor formed by IL22RA1 and IL10RB enabling IL22 signaling via JAK/STAT pathways. IL22 also induces activation of MAPK1/MAPK3 and Akt kinases pathways. Component of one of the receptor for IL20 and IL24 formed by IL22RA1 and IL20RB also signaling through STATs activation. Mediates IL24 antiangiogenic activity as well as IL24 inhibitory effect on endothelial cell tube formation and differentiation. Ref.6 Ref.7 Ref.9 Ref.10 Ref.11 Ref.14

Subunit structure

Heterodimer with IL10RB and with IL20RB. IL22 binding to heterodimer is greater than binding to IL22RA1 alone. Ref.6 Ref.13

Subcellular location

Membrane; Single-pass type I membrane protein.

Tissue specificity

Expressed in colon, liver, lung, pancreas and kidney. No expression in immune cells such as monocytes, T-cells, and NK-cells. Expressed in keratinocytes of normal skin as well as in psoriatic skin lesion. Detected in normal blood brain barrier endothelial cells as well as in multiple sclerosis lesions; Strongly expressed on central nervous system vessels within infiltrated multiple sclerosis lesions. Overexpressed in synovial fluid cells from rheumatoid arthritis and spondyloarthropathy patients. Ref.8 Ref.12 Ref.15 Ref.17 Ref.18

Induction

By IFNG/IFN-gamma in keratinocytes. Ref.12

Miscellaneous

Failure of medical and surgical therapy in Chronic rhinosinusitis with nasal polyps is associated with decreased expression of IL22RA1.

Sequence similarities

Belongs to the type II cytokine receptor family.

Contains 2 fibronectin type-III domains.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1515 Potential
Chain16 – 574559Interleukin-22 receptor subunit alpha-1
PRO_0000324320

Regions

Topological domain16 – 228213Extracellular Potential
Transmembrane229 – 24921Helical; Potential
Topological domain250 – 574325Cytoplasmic Potential
Domain17 – 124108Fibronectin type-III 1
Domain141 – 22181Fibronectin type-III 2

Amino acid modifications

Glycosylation801N-linked (GlcNAc...) Potential
Glycosylation1721N-linked (GlcNAc...) Potential
Disulfide bond71 ↔ 79 Ref.19
Disulfide bond128 ↔ 217 Ref.19

Natural variations

Natural variant1301S → P.
Corresponds to variant rs34900099 [ dbSNP | Ensembl ].
VAR_039699
Natural variant2051V → I.
Corresponds to variant rs16829204 [ dbSNP | Ensembl ].
VAR_039700
Natural variant2091A → S.
Corresponds to variant rs34379702 [ dbSNP | Ensembl ].
VAR_039701
Natural variant2221L → P.
Corresponds to variant rs34782294 [ dbSNP | Ensembl ].
VAR_039702
Natural variant4071M → V.
Corresponds to variant rs35401673 [ dbSNP | Ensembl ].
VAR_039703
Natural variant5181R → G. Ref.1 Ref.2
Corresponds to variant rs3795299 [ dbSNP | Ensembl ].
VAR_039704

Experimental info

Mutagenesis581K → A: Strongly reduced response to IL22. Ref.19
Mutagenesis601Y → A or R: Loss of response to IL22. Ref.19
Sequence conflict1171Q → R in BAF84893. Ref.2

Secondary structure

..................................... 574
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q8N6P7 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: D46CC71D496F3420

FASTA57463,077
        10         20         30         40         50         60 
MRTLLTILTV GSLAAHAPED PSDLLQHVKF QSSNFENILT WDSGPEGTPD TVYSIEYKTY 

        70         80         90        100        110        120 
GERDWVAKKG CQRITRKSCN LTVETGNLTE LYYARVTAVS AGGRSATKMT DRFSSLQHTT 

       130        140        150        160        170        180 
LKPPDVTCIS KVRSIQMIVH PTPTPIRAGD GHRLTLEDIF HDLFYHLELQ VNRTYQMHLG 

       190        200        210        220        230        240 
GKQREYEFFG LTPDTEFLGT IMICVPTWAK ESAPYMCRVK TLPDRTWTYS FSGAFLFSMG 

       250        260        270        280        290        300 
FLVAVLCYLS YRYVTKPPAP PNSLNVQRVL TFQPLRFIQE HVLIPVFDLS GPSSLAQPVQ 

       310        320        330        340        350        360 
YSQIRVSGPR EPAGAPQRHS LSEITYLGQP DISILQPSNV PPPQILSPLS YAPNAAPEVG 

       370        380        390        400        410        420 
PPSYAPQVTP EAQFPFYAPQ AISKVQPSSY APQATPDSWP PSYGVCMEGS GKDSPTGTLS 

       430        440        450        460        470        480 
SPKHLRPKGQ LQKEPPAGSC MLGGLSLQEV TSLAMEESQE AKSLHQPLGI CTDRTSDPNV 

       490        500        510        520        530        540 
LHSGEEGTPQ YLKGQLPLLS SVQIEGHPMS LPLQPPSRPC SPSDQGPSPW GLLESLVCPK 

       550        560        570 
DEAKSPAPET SDLEQPTELD SLFRGLALTV QWES 

« Hide

References

« Hide 'large scale' references
[1]"Interleukin (IL)-22, a novel human cytokine that signals through the interferon receptor-related proteins CRF2-4 and IL-22R."
Xie M.-H., Aggarwal S., Ho W.-H., Foster J., Zhang Z., Stinson J., Wood W.I., Goddard A.D., Gurney A.L.
J. Biol. Chem. 275:31335-31339(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLY-518.
[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 GLY-518.
Tissue: Esophagus and Liver.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [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 (JUL-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].
Tissue: Adrenal cortex.
[6]"Identification of the functional interleukin-22 (IL-22) receptor complex: the IL-10R2 chain (IL-10Rbeta) is a common chain of both the IL-10 and IL-22 (IL-10-related T cell-derived inducible factor, IL-TIF) receptor complexes."
Kotenko S.V., Izotova L.S., Mirochnitchenko O.V., Esterova E., Dickensheets H., Donnelly R.P., Pestka S.
J. Biol. Chem. 276:2725-2732(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBUNIT.
[7]"STAT activation by IL-19, IL-20 and mda-7 through IL-20 receptor complexes of two types."
Dumoutier L., Leemans C., Lejeune D., Kotenko S.V., Renauld J.-C.
J. Immunol. 167:3545-3549(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[8]"IL-22, in contrast to IL-10, does not induce Ig production, due to absence of a functional IL-22 receptor on activated human B cells."
Lecart S., Morel F., Noraz N., Pene J., Garcia M., Boniface K., Lecron J.-C., Yssel H.
Int. Immunol. 14:1351-1356(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[9]"Interleukin 24 (MDA-7/MOB-5) signals through two heterodimeric receptors, IL-22R1/IL-20R2 and IL-20R1/IL-20R2."
Wang M., Tan Z., Zhang R., Kotenko S.V., Liang P.
J. Biol. Chem. 277:7341-7347(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[10]"Interleukins 19, 20, and 24 signal through two distinct receptor complexes. Differences in receptor-ligand interactions mediate unique biological functions."
Parrish-Novak J., Xu W., Brender T., Yao L., Jones C., West J., Brandt C., Jelinek L., Madden K., McKernan P.A., Foster D.C., Jaspers S., Chandrasekher Y.A.
J. Biol. Chem. 277:47517-47523(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[11]"Melanoma differentiation-associated gene 7/interleukin (IL)-24 is a novel ligand that regulates angiogenesis via the IL-22 receptor."
Ramesh R., Mhashilkar A.M., Tanaka F., Saito Y., Branch C.D., Sieger K., Mumm J.B., Stewart A.L., Boquoi A., Dumoutier L., Grimm E.A., Renauld J.-C., Kotenko S., Chada S.
Cancer Res. 63:5105-5113(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[12]"IL-22 increases the innate immunity of tissues."
Wolk K., Kunz S., Witte E., Friedrich M., Asadullah K., Sabat R.
Immunity 21:241-254(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, INDUCTION.
[13]"Temporal associations between interleukin 22 and the extracellular domains of IL-22R and IL-10R2."
Li J., Tomkinson K.N., Tan X.-Y., Wu P., Yan G., Spaulding V., Deng B., Annis-Freeman B., Heveron K., Zollner R., De Zutter G., Wright J.F., Crawford T.K., Liu W., Jacobs K.A., Wolfman N.M., Ling V., Pittman D.D., Veldman G.M., Fouser L.A.
Int. Immunopharmacol. 4:693-708(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT.
[14]"IL-22-mediated liver cell regeneration is abrogated by SOCS-1/3 overexpression in vitro."
Brand S., Dambacher J., Beigel F., Zitzmann K., Heeg M.H.J., Weiss T.S., Pruefer T., Olszak T., Steib C.J., Storr M., Goeke B., Diepolder H., Bilzer M., Thasler W.E., Auernhammer C.J.
Am. J. Physiol. 292:G1019-G1028(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[15]"A role for T cell-derived interleukin 22 in psoriatic skin inflammation."
Boniface K., Guignouard E., Pedretti N., Garcia M., Delwail A., Bernard F.-X., Nau F., Guillet G., Dagregorio G., Yssel H., Lecron J.-C., Morel F.
Clin. Exp. Immunol. 150:407-415(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[16]"Chronic rhinosinusitis with nasal polyps is associated with decreased expression of mucosal interleukin 22 receptor."
Ramanathan M. Jr., Spannhake E.W., Lane A.P.
Laryngoscope 117:1839-1843(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION WITH CHRONIC RHINOSINUSITIS.
[17]"Human TH17 lymphocytes promote blood-brain barrier disruption and central nervous system inflammation."
Kebir H., Kreymborg K., Ifergan I., Dodelet-Devillers A., Cayrol R., Bernard M., Giuliani F., Arbour N., Becher B., Prat A.
Nat. Med. 13:1173-1175(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[18]"The expression of IL-20 and IL-24 and their shared receptors are increased in rheumatoid arthritis and spondyloarthropathy."
Kragstrup T.W., Otkjaer K., Holm C., Jorgensen A., Hokland M., Iversen L., Deleuran B.
Cytokine 41:16-23(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[19]"Crystal structure of the IL-22/IL-22R1 complex and its implications for the IL-22 signaling mechanism."
Bleicher L., de Moura P.R., Watanabe L., Colau D., Dumoutier L., Renauld J.-C., Polikarpov I.
FEBS Lett. 582:2985-2992(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 18-228 IN COMPLEX WITH IL22, MUTAGENESIS OF LYS-58 AND TYR-60, DISULFIDE BONDS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF286095 mRNA. Translation: AAG22073.1.
AK292204 mRNA. Translation: BAF84893.1.
AK313971 mRNA. Translation: BAG36686.1.
AL590683, AL591178 Genomic DNA. Translation: CAH70116.1.
AL591178, AL590683 Genomic DNA. Translation: CAH72088.1.
CH471134 Genomic DNA. Translation: EAW95111.1.
BC029273 mRNA. Translation: AAH29273.1.
CCDSCCDS247.1.
RefSeqNP_067081.2. NM_021258.3.
UniGeneHs.110915.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3DGCX-ray2.50R/S17-226[»]
3DLQX-ray1.90R18-228[»]
ProteinModelPortalQ8N6P7.
SMRQ8N6P7. Positions 19-225.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121855. 2 interactions.
DIPDIP-42031N.
IntActQ8N6P7. 2 interactions.
MINTMINT-147649.
STRING9606.ENSP00000270800.

PTM databases

PhosphoSiteQ8N6P7.

Polymorphism databases

DMDM74751067.

Proteomic databases

PaxDbQ8N6P7.
PRIDEQ8N6P7.

Protocols and materials databases

DNASU58985.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000270800; ENSP00000270800; ENSG00000142677.
GeneID58985.
KEGGhsa:58985.
UCSCuc001biq.2. human.

Organism-specific databases

CTD58985.
GeneCardsGC01M024446.
HGNCHGNC:13700. IL22RA1.
HPACAB025781.
MIM605457. gene.
neXtProtNX_Q8N6P7.
PharmGKBPA29823.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG26150.
HOGENOMHOG000060223.
HOVERGENHBG104189.
InParanoidQ8N6P7.
KOK05138.
OMALTVQWES.
OrthoDBEOG7NPFVK.
PhylomeDBQ8N6P7.
TreeFamTF334107.

Enzyme and pathway databases

SignaLinkQ8N6P7.

Gene expression databases

BgeeQ8N6P7.
CleanExHS_IL22RA1.
GenevestigatorQ8N6P7.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
[Graphical view]
PfamPF01108. Tissue_fac. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 1 hit.
PROSITEPS50853. FN3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ8N6P7.
GenomeRNAi58985.
NextBio65126.
PROQ8N6P7.
SOURCESearch...

Entry information

Entry nameI22R1_HUMAN
AccessionPrimary (citable) accession number: Q8N6P7
Secondary accession number(s): A8K839, B2R9Y9, Q9HB22
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 112 of the entry and version 1 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 1

Human chromosome 1: entries, gene names and cross-references to MIM