Variant position: 302 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 TRFLKRGANCEGDVANEVET EQILCDASVMSF-----TAG-------SYSSYV
Mouse TRFLKRGANCEGDVANEVET EQILCDASVMSF-----TAG-
Baker's yeast ARFLKRGVNNKGHVANEVET EQIVTDMILTPF----HQPGN
Fission yeast ARFLRRGIRDDGYVANEVET EQIVFDGSASSFPISSTTPG-
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
154 – 547 SAC
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;
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