UniProtKB/Swiss-Prot P29033: Variant p.Val27Ile

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

27 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 Valine (V) to Isoleucine (I) at position 27 (V27I, p.Val27Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs2274084 [ dbSNP | Ensembl ]

Sequence information Variant position:

27 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:

QTILGGVNKHSTSIGKIWLT V LFIFRIMILVVAAKEVWGDE 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                         QTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDE

Gorilla                       QTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDE

Rhesus macaque                QTILGGVNKYSTSIGKIWLTVLFIFRIMILVVAAKEVWGDE

Mouse                         QSILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDE

Rat                           QSILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDE

Bovine                        HTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDE

Sheep                         QTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDE

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
Transmembrane	21 – 40	Helical
Binding site	42 – 42	in other chain
Binding site	45 – 45
Binding site	47 – 47
Mutagenesis	34 – 34	M -> A. Loss of gap junction ion conductance, probably due to very low open probability of the channels. Can form functional channels with wild-type, but with strongly reduced channel conductance. No visible effect on channel assembly and membrane insertion.
Helix	19 – 38

Literature citations
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; 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]; VARIANTS ILE-27 AND GLY-114; Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley P.M.; Harris D.J.; Comer B.C.; Askew J.W.; Fowler T.; Smith S.D.; Kimberling W.J.;
Am. J. Hum. Genet. 62:792-799(1998)
Cited for: VARIANTS DFNB1A LEU-84; MET-95 AND ARG-113; VARIANTS ILE-27 AND ILE-37; Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.
Kudo T.; Ikeda K.; Kure S.; Matsubara Y.; Oshima T.; Watanabe K.; Kawase T.; Narisawa K.; Takasaka T.;
Am. J. Med. Genet. 90:141-145(2000)
Cited for: VARIANTS ILE-27; ILE-37; GLY-114 AND THR-203; GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A.; Yuge I.; Kimura S.; Namba A.; Abe S.; Van Laer L.; Van Camp G.; Usami S.;
Hum. Genet. 112:329-333(2003)
Cited for: VARIANTS DEAFNESS GLU-45; THR-71; ARG-86 AND TRP-143; VARIANTS ILE-27; ILE-37; GLY-114; ASN-123; LEU-191 AND THR-203; 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; Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
Nemoto-Hasebe I.; Akiyama M.; Kudo S.; Ishiko A.; Tanaka A.; Arita K.; Shimizu H.;
Br. J. Dermatol. 161:452-455(2009)
Cited for: VARIANT ILE-27;

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.