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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Phe149Ile

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 149
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Isoleucine (I) at position 149 (F149I, p.Phe149Ile).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (I)
BLOSUM score: help 0
Variant description: help In CMTX1.


Sequence information Variant position: help 149
Protein sequence length: help 283
Location on the sequence: help GTLWWTYVISVVFRLLFEAV F MYVFYLLYPGYAMVRLVKCD
Residue conservation: help 
Human                         GTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCD

Mouse                         GTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCE

Rat                           GTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCE

Bovine                        GTLWWTYVISVVFRLLFEAAFMYVFYLLYPGYAMVRLVKCD

Horse                         GTLWWTYVISVVFRLLFEAAFMYVFYLLYPGYAMVRLVKCD

Xenopus laevis                GTLWWTYISSVFFRIIFEAAFMYIFYLIYPGYSMIRLLKCD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Transmembrane 131 – 153 Helical
Helix 130 – 156



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.