UniProtKB/SwissProt variant VAR

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

71
Type of variant:

LP/P [Disclaimer]
Residue change:

From Isoleucine (I) to Threonine (T) at position 71 (I71T, p.Ile71Thr).
Physico-chemical properties:

Change from medium size and hydrophobic (I) to medium size and polar (T)
BLOSUM score:

-1
Variant description:

In DFNB1A.
Other resources:

Variant rs1373154561 [ dbSNP | Ensembl ]

Sequence information Variant position:

71
Protein sequence length:

226
Location on the sequence:

FVCNTLQPGCKNVCYDHYFP I SHIRLWALQLIFVSTPALLV
Residue conservation:

Human                         FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Gorilla                       FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Rhesus macaque                FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Mouse                         FVCNTLQPGCKNVCYDHHFPISHIRLWALQLIMVSTPALLV

Rat                           FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIMVSTPALLV

Bovine                        FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Sheep                         FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 226	Gap junction beta-2 protein
Topological domain	41 – 73	Extracellular
Disulfide bond	53 – 180
Disulfide bond	60 – 174
Disulfide bond	64 – 169

Literature citations
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 DFNB1A ILE-37; GLU-45; THR-71; ARG-86; TRP-143 AND LEU-191; VARIANTS ILE-27; GLY-114; ASN-123 AND THR-203;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29033: Variant p.Ile71Thr