Variant position: 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 907 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RARYFLVGSNNAETKYRVLK IDRTEPK-DLVIIDDRHVYTQQ
Mouse RARYFLVGSNHAETKYRVLK IDRTEPK-DLVVIDDRHVYTQ
Baker's yeast KDRMYIVGSNKRETMFRILE IDLTVPRGELTVLEDNVFFTR
Fission yeast KKCYYIVSENATATIFRILK ITQSEDELSISIEEAAKILFR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 907 Polyphosphoinositide phosphatase
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Chow C.Y.; Zhang Y.; Dowling J.J.; Jin N.; Adamska M.; Shiga K.; Szigeti K.; Shy M.E.; Li J.; Zhang X.; Lupski J.R.; Weisman L.S.; Meisler M.H.;
Cited for: VARIANT CMT4J THR-41;
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4.
Nicholson G.; Lenk G.M.; Reddel S.W.; Grant A.E.; Towne C.F.; Ferguson C.J.; Simpson E.; Scheuerle A.; Yasick M.; Hoffman S.; Blouin R.; Brandt C.; Coppola G.; Biesecker L.G.; Batish S.D.; Meisler M.H.;
Cited for: VARIANTS CMT4J PRO-17; THR-41 AND LYS-302; CHARACTERIZATION OF VARIANT CMT4J LYS-302;
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
Lenk G.M.; Ferguson C.J.; Chow C.Y.; Jin N.; Jones J.M.; Grant A.E.; Zolov S.N.; Winters J.J.; Giger R.J.; Dowling J.J.; Weisman L.S.; Meisler M.H.;
PLoS Genet. 7:E1002104-E1002104(2011)
Cited for: CHARACTERIZATION OF VARIANT CMT4J THR-41;
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.