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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Pro158Ser

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 158
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 158 (P158S, p.Pro158Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In CMTX1.


Sequence information Variant position: help 158
Protein sequence length: help 283
Location on the sequence: help SVVFRLLFEAVFMYVFYLLY P GYAMVRLVKCDVYPCPNTVD
Residue conservation: help 
Human                         SVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVD

Mouse                         SVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCEAFPCPNTVD

Rat                           SVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCEAFPCPNTVD

Bovine                        SVVFRLLFEAAFMYVFYLLYPGYAMVRLVKCDAYPCPNTVD

Horse                         SVVFRLLFEAAFMYVFYLLYPGYAMVRLVKCDAYPCPNTVD

Xenopus laevis                SVFFRIIFEAAFMYIFYLIYPGYSMIRLLKCDAYPCPNTVD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Topological domain 154 – 191 Extracellular



Literature citations
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Nelis E.; Haites N.; van Broeckhoven C.;
Hum. Mutat. 13:11-28(1999)
Cited for: VARIANTS CMTX1 GLY-11; PRO-39; PHE-81; PRO-83; CYS-135; ILE-149; SER-158 AND ARG-173;
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.