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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NW08: Variant p.Asp375Val

DNA-directed RNA polymerase III subunit RPC2
Gene: POLR3B
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Variant information Variant position: help 375
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Valine (V) at position 375 (D375V, p.Asp375Val).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In CMT1I; affects RNA polymerase III assembly; no effect on nuclear localization.
Other resources: help


Sequence information Variant position: help 375
Protein sequence length: help 1133
Location on the sequence: help DYYGNKRLELAGQLLSLLFE D LFKKFNSEMKKIADQVIPKQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1133 DNA-directed RNA polymerase III subunit RPC2
Helix 365 – 391



Literature citations
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D.; Pinard M.; Gauthier M.S.; Smith-Hicks C.; Hoffman T.L.; Wolf N.I.; Oegema R.; van Binsbergen E.; Baskin B.; Bernard G.; Fribourg S.; Coulombe B.; Yoon G.;
Am. J. Hum. Genet. 108:186-193(2021)
Cited for: VARIANTS CMT1I LYS-363; VAL-365; VAL-375; SER-426; ARG-462 AND HIS-1046; CHARACTERIZATION OF VARIANTS CMT1I LYS-363; VAL-365; VAL-375; SER-426; ARG-462 AND HIS-1046; INVOLVEMENT IN CMT1I; SUBCELLULAR LOCATION;
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.