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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29033: Variant p.Arg127His

Gap junction beta-2 protein
Gene: GJB2
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Variant information Variant position: help 127
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 127 (R127H, p.Arg127His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 127
Protein sequence length: help 226
Location on the sequence: help IKGEIKSEFKDIEEIKTQKV R IEGSLWWTYTSSIFFRVIFE
Residue conservation: help 
Human                         IKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFE

Gorilla                       IKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFE

Rhesus macaque                IKGEIKNEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVVFE

Mouse                         MKGEIKNEFKDIEEIKTQKVRIEGSLWWTYTTSIFFRVIFE

Rat                           MKGEIKNEFKDIEEIKTQKVRIEGSLWWTYTTSIFFRVIFE

Bovine                        IRGEIKTEFKDIEEIKKQKVRIEGSLWWTYTGSIFFRVIFE

Sheep                         IRGEIKTEFKDIEEIKNQKVRIEGSLWWTYTGSIFFRVIFE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 226 Gap junction beta-2 protein
Topological domain 95 – 135 Cytoplasmic
Disulfide bond 53 – 180
Disulfide bond 60 – 174
Disulfide bond 64 – 169



Literature citations
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.
Gasmelseed N.M.A.; Schmidt M.; Magzoub M.M.A.; Macharia M.; Elmustafa O.M.; Ototo B.; Winkler E.; Ruge G.; Horstmann R.D.; Meyer C.G.;
Hum. Mutat. 23:206-207(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT DFNB1A ILE-37; VARIANTS 46-ASP--GLN-48 DELINS GLU; HIS-127; ILE-153; SER-160 AND MET-167; GJB2 mutations: passage through Iran.
Najmabadi H.; Nishimura C.; Kahrizi K.; Riazalhosseini Y.; Malekpour M.; Daneshi A.; Farhadi M.; Mohseni M.; Mahdieh N.; Ebrahimi A.; Bazazzadegan N.; Naghavi A.; Avenarius M.; Arzhangi S.; Smith R.J.H.;
Am. J. Med. Genet. A 133:132-137(2005)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS DFNB1A HIS-32; LYS-80; ILE-93; GLU-120 DEL; LYS-129; TRP-143 AND PRO-184; VARIANTS ILE-27; GLY-114; HIS-127 AND ILE-153; Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.
Ramshankar M.; Girirajan S.; Dagan O.; Ravi Shankar H.M.; Jalvi R.; Rangasayee R.; Avraham K.B.; Anand A.;
J. Med. Genet. 40:E68-E68(2003)
Cited for: VARIANTS ILE-27; THR-111; GLY-114; HIS-127; ILE-153 AND TRP-165;
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.