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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TD31: Variant p.Arg109Trp

Coiled-coil alpha-helical rod protein 1
Gene: CCHCR1
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Variant information Variant position: help 109
Type of variant: help LB/B
Residue change: help From Arginine (R) to Tryptophan (W) at position 109 (R109W, p.Arg109Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Polymorphism: help HCR*WWCC is associated with susceptibility to psoriasis. Psoriasis is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is a multifactorial disease characterized by red, scaly skin lesions that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by hyperproliferative keratinocytes and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age. Association of HCR with psoriasis seem to be due to linkage disequilibrium with Cw*06:02 (PubMed:11348465). HCR is unlikely to be directly involved in psoriasis development.
Variant description: help In allele HCR*WWCC; risk factor for psoriasis.
Other resources: help


Sequence information Variant position: help 109
Protein sequence length: help 782
Location on the sequence: help QQAEVIVRQLQELRRLEEEV R LLRETSLQQKMRLEAQAMEL
Residue conservation: help
Human                         QQAEVIVRQLQELRRLEEEVRLLRETSLQQKMRLEAQAMEL

Gorilla                       QQAEVIARQLQELRRLEEEVRLLRETSLQQKMRLEAQAMEL

Chimpanzee                    QQAEVIARQLQELRRLEEEVRLLRETSLQQKMRLEAQAMEL

Mouse                         QQAELISRQLQELRRLEEEVRSLRETSLQQKMRLETQAVEL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 782 Coiled-coil alpha-helical rod protein 1



Literature citations
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus.
Asumalahti K.; Veal A.; Laitinen T.; Suomela S.; Allen M.; Elomaa O.; Moser M.; de Cid R.; Ripatti S.; Vorechovsky I.; Marcusson J.A.; Nakagawa H.; Lazaro C.; Estivill X.; Capon F.; Novelli G.; Burden D.B.; Tillman D.; Powis S.H.; Balendran N.; Ameen M.; Vaughan R.W.; Heath E.K.; Itkonen-Vatjus R.; Jansen C.; Karvonen J.; Karvonen S.-L.; Kivekas K.; Reunala T.; Snellman E.; Uurasmaa T.; Toftgard R.; Murakami T.; Otsuki M.; Asahina A.; Saeki H.; Barbera E.; Ferrandiz C.; Gimenez Arnau A.; Grimalt F.; Puig S.; Sanchez A.; Palacios A.; Pujol J.A.; Sanchez M.; Simal E.; Vazquez F.; Ramirez B.; Saarialho-Kere U.; Barker J.; Trembath R.; Kere J.;
Hum. Mol. Genet. 11:589-597(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLN-102; TRP-103; TRP-109; ARG-164; ASP-275; TRP-417; CYS-575; GLN-627; HIS-639 AND CYS-776; The DNA sequence and analysis of human chromosome 6.
Mungall A.J.; Palmer S.A.; Sims S.K.; Edwards C.A.; Ashurst J.L.; Wilming L.; Jones M.C.; Horton R.; Hunt S.E.; Scott C.E.; Gilbert J.G.R.; Clamp M.E.; Bethel G.; Milne S.; Ainscough R.; Almeida J.P.; Ambrose K.D.; Andrews T.D.; Ashwell R.I.S.; Babbage A.K.; Bagguley C.L.; Bailey J.; Banerjee R.; Barker D.J.; Barlow K.F.; Bates K.; Beare D.M.; Beasley H.; Beasley O.; Bird C.P.; Blakey S.E.; Bray-Allen S.; Brook J.; Brown A.J.; Brown J.Y.; Burford D.C.; Burrill W.; Burton J.; Carder C.; Carter N.P.; Chapman J.C.; Clark S.Y.; Clark G.; Clee C.M.; Clegg S.; Cobley V.; Collier R.E.; Collins J.E.; Colman L.K.; Corby N.R.; Coville G.J.; Culley K.M.; Dhami P.; Davies J.; Dunn M.; Earthrowl M.E.; Ellington A.E.; Evans K.A.; Faulkner L.; Francis M.D.; Frankish A.; Frankland J.; French L.; Garner P.; Garnett J.; Ghori M.J.; Gilby L.M.; Gillson C.J.; Glithero R.J.; Grafham D.V.; Grant M.; Gribble S.; Griffiths C.; Griffiths M.N.D.; Hall R.; Halls K.S.; Hammond S.; Harley J.L.; Hart E.A.; Heath P.D.; Heathcott R.; Holmes S.J.; Howden P.J.; Howe K.L.; Howell G.R.; Huckle E.; Humphray S.J.; Humphries M.D.; Hunt A.R.; Johnson C.M.; Joy A.A.; Kay M.; Keenan S.J.; Kimberley A.M.; King A.; Laird G.K.; Langford C.; Lawlor S.; Leongamornlert D.A.; Leversha M.; Lloyd C.R.; Lloyd D.M.; Loveland J.E.; Lovell J.; Martin S.; Mashreghi-Mohammadi M.; Maslen G.L.; Matthews L.; McCann O.T.; McLaren S.J.; McLay K.; McMurray A.; Moore M.J.F.; Mullikin J.C.; Niblett D.; Nickerson T.; Novik K.L.; Oliver K.; Overton-Larty E.K.; Parker A.; Patel R.; Pearce A.V.; Peck A.I.; Phillimore B.J.C.T.; Phillips S.; Plumb R.W.; Porter K.M.; Ramsey Y.; Ranby S.A.; Rice C.M.; Ross M.T.; Searle S.M.; Sehra H.K.; Sheridan E.; Skuce C.D.; Smith S.; Smith M.; Spraggon L.; Squares S.L.; Steward C.A.; Sycamore N.; Tamlyn-Hall G.; Tester J.; Theaker A.J.; Thomas D.W.; Thorpe A.; Tracey A.; Tromans A.; Tubby B.; Wall M.; Wallis J.M.; West A.P.; White S.S.; Whitehead S.L.; Whittaker H.; Wild A.; Willey D.J.; Wilmer T.E.; Wood J.M.; Wray P.W.; Wyatt J.C.; Young L.; Younger R.M.; Bentley D.R.; Coulson A.; Durbin R.M.; Hubbard T.; Sulston J.E.; Dunham I.; Rogers J.; Beck S.;
Nature 425:805-811(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS TRP-103; TRP-109; ARG-164; TRP-417; CYS-575 AND CYS-776; 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)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANTS TRP-109; ARG-164; TRP-417; CYS-575 AND CYS-776; Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111kb segment telomeric to the HLA-C gene.
Oka A.; Tamiya G.; Tomizawa M.; Ota M.; Katsuyama Y.; Makino S.; Shiina T.; Yoshitome M.; Lizuka M.; Sasao Y.; Iwashita K.; Kawakubo Y.; Sugai J.; Ozawa A.; Ohkido M.; Kimura M.; Bahram S.; Inoko H.;
Hum. Mol. Genet. 8:2165-2170(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 20-782 (ISOFORMS 1/2); VARIANTS TRP-103; TRP-109; ARG-164; ASP-275; TRP-417; CYS-575 AND CYS-776; The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene.
O'Brien K.P.; Holm S.J.; Nilsson S.; Carlen L.; Rosenmuller T.; Enerbaeck C.; Inerot A.; Staahle-Baeckdahl M.;
J. Invest. Dermatol. 116:750-754(2001)
Cited for: VARIANTS GLN-102; TRP-103; TRP-109; ARG-164; GLN-179; ASP-275; THR-367; TRP-417; GLN-417; CYS-575; GLN-627; VAL-733 AND CYS-776;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.