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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Phe180Ser

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 180
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Serine (S) at position 180 (F180S, p.Phe180Ser).
Physico-chemical properties: help Change from large size and aromatic (F) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In CMTX1.


Sequence information Variant position: help 180
Protein sequence length: help 283
Location on the sequence: help YAMVRLVKCDVYPCPNTVDC F VSRPTEKTVFTVFMLAASGI
Residue conservation: help 
Human                         YAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGI

Mouse                         YAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTVFMLAASGI

Rat                           YAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTVFMLAASGI

Bovine                        YAMVRLVKCDAYPCPNTVDCFVSRPTEKTIFTVFMLAASGI

Horse                         YAMVRLVKCDAYPCPNTVDCFVSRPTEKTVFTVFMLAASGI

Xenopus laevis                YSMIRLLKCDAYPCPNTVDCFVSRPTEKTIFTVFMLVASGV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Topological domain 154 – 191 Extracellular
Beta strand 177 – 180



Literature citations
X-linked Charcot-Marie-Tooth disease and connexin32.
Ionasescu V.V.;
Cell Biol. Int. 22:807-813(1998)
Cited for: VARIANTS CMTX1 SER-3; GLN-22; ALA-70; SER-77; ARG-80; MET-95; GLY-102; TRP-142; TRP-164 AND SER-180;
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.