UniProtKB/Swiss-Prot P48165: Variant p.Ile247Met

Gap junction alpha-8 protein
Gene: GJA8
Feedback?

Variant information Variant position:

247 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 Isoleucine (I) to Methionine (M) at position 247 (I247M, p.Ile247Met). 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:

1 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
Variant description:

Does not affect gap junctions formation and gap junctional currents. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs80358202 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LGLKGIRSALKRPVEQPLGE I PEKSLHSIAVSSIQKAKGYQ 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                         LGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQ

Mouse                         LGMKGIRSAFKRPVEQPLGEIAEKSLHSIAVSSIQKAKGYQ

Rat                           LGMKGIRSAFKRPAEQPLGEIAEKSLHSIAVSSIQKAKGYQ

Sheep                         LGLKKIRSAFKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQ

Chicken                       LILKRIRRALRRPAEEQMGEVPEKPLHAIAVSSIPKAKGYK

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	2 – 433	Gap junction alpha-8 protein
Topological domain	225 – 433	Cytoplasmic

Literature citations
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.
Polyakov A.V.; Shagina I.A.; Khlebnikova O.V.; Evgrafov O.V.;
Clin. Genet. 60:476-478(2001)
Cited for: VARIANT MET-247; INVOLVEMENT IN CTRCT1; The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.
Graw J.; Schmidt W.; Minogue P.J.; Rodriguez J.; Tong J.J.; Klopp N.; Illig T.; Ebihara L.; Berthoud V.M.; Beyer E.C.;
Mol. Vis. 15:1881-1885(2009)
Cited for: VARIANT MET-247; CHARACTERIZATION OF VARIANT MET-247; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis L.M.; Tyler R.C.; Muheisen S.; Raggio V.; Salviati L.; Han D.P.; Costakos D.; Yonath H.; Hall S.; Power P.; Semina E.V.;
Hum. Genet. 132:761-770(2013)
Cited for: VARIANTS CTRCT1 GLY-67 AND CYS-76; VARIANT MET-247;

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.