Variant position: 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 358 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 TFLDERTPRLMPDKESMYYP RVQHYRELLDSLPMDAYTHGC
Mouse TFLDERTPRLMPDEGSMYYP RVQHYRELLDSLPMDAYTHGC
Bovine TFLDEKTPRLMPDKGSMYYP RVQHYRELLDSLPMDAYTHGC
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 – 358 Ganglioside-induced differentiation-associated protein 1
116 – 116 M -> H. Impairment in the ability to induce mitochondrial fragmentation.
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Pedrola L.; Espert A.; Wu X.; Claramunt R.; Shy M.E.; Palau F.;
Hum. Mol. Genet. 14:1087-1094(2005)
Cited for: SUBCELLULAR LOCATION; MUTAGENESIS OF THR-157; CHARACTERIZATION OF VARIANTS CMT4A GLN-120 AND HIS-161; CHARACTERIZATION OF VARIANT CMTRIA CYS-282; CHARACTERIZATION OF VARIANT CMT2K TRP-120;
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.
Niemann A.; Ruegg M.; La Padula V.; Schenone A.; Suter U.;
J. Cell Biol. 170:1067-1078(2005)
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; TOPOLOGY; FUNCTION; MUTAGENESIS OF MET-116; CHARACTERIZATION OF VARIANTS CMT4A GLN-120 AND HIS-161; CHARACTERIZATION OF VARIANT CMT2RV GLN-310; CHARACTERIZATION OF VARIANT CMTRIA CYS-282;
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Boerkoel C.F.; Takashima H.; Nakagawa M.; Izumo S.; Armstrong D.; Butler I.; Mancias P.; Papasozomenos S.C.H.; Stern L.Z.; Lupski J.R.;
Ann. Neurol. 53:400-405(2003)
Cited for: VARIANT CMT4A GLN-120;
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