UniProtKB/Swiss-Prot P29033: Variant p.Arg127His

Gap junction beta-2 protein
Gene: GJB2
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Variant information Variant position:

127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Histidine (H) at position 127 (R127H, p.Arg127His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs111033196 [ dbSNP | Ensembl ]

Sequence information Variant position:

127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

226 The length of the canonical sequence.
Location on the sequence:

IKGEIKSEFKDIEEIKTQKV R IEGSLWWTYTSSIFFRVIFE The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         IKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFE

Gorilla                       IKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFE

Rhesus macaque                IKGEIKNEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVVFE

Mouse                         MKGEIKNEFKDIEEIKTQKVRIEGSLWWTYTTSIFFRVIFE

Rat                           MKGEIKNEFKDIEEIKTQKVRIEGSLWWTYTTSIFFRVIFE

Bovine                        IRGEIKTEFKDIEEIKKQKVRIEGSLWWTYTGSIFFRVIFE

Sheep                         IRGEIKTEFKDIEEIKNQKVRIEGSLWWTYTGSIFFRVIFE

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
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.