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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TB36: Variant p.Arg120Gln

Ganglioside-induced differentiation-associated protein 1
Gene: GDAP1
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Variant information Variant position: help 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glutamine (Q) at position 120 (R120Q, p.Arg120Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CMT4A; no effect on mitochondrial localization but impairment in the ability to induce mitochondrial fragmentation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 358 The length of the canonical sequence.
Location on the sequence: help TFLDERTPRLMPDKESMYYP R VQHYRELLDSLPMDAYTHGC 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGC

Mouse                         TFLDERTPRLMPDEGSMYYPRVQHYRELLDSLPMDAYTHGC

Bovine                        TFLDEKTPRLMPDKGSMYYPRVQHYRELLDSLPMDAYTHGC
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 358 Ganglioside-induced differentiation-associated protein 1
Mutagenesis 116 – 116 M -> H. Impairment in the ability to induce mitochondrial fragmentation.
Helix 118 – 129



Literature citations
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;
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.