UniProtKB/Swiss-Prot Q8TB36: Variant p.Arg226Ser

Ganglioside-induced differentiation-associated protein 1
Gene: GDAP1
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Variant information Variant position:

226 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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:

From Arginine (R) to Serine (S) at position 226 (R226S, p.Arg226Ser). 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:

Change from large size and basic (R) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In CMT2K; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs267606842 [ dbSNP | Ensembl ]

Sequence information Variant position:

226 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:

KKILDELEKVLDQVETELQR R NEETPEEGQQPWLCGESFTL 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                         KKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTL

Mouse                         KKILDELEKVLDQVETELQRRNEETPEEGNQPWLCGESFTL

Bovine                        KKILDELEKVLDQVETELQRRNEETPEEGRQPWLCGESFTL

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
Chain	1 – 358	Ganglioside-induced differentiation-associated protein 1
Domain	153 – 309	GST C-terminal
Cross	206 – 206	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross	207 – 207	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross	214 – 214	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Helix	186 – 228

Literature citations
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
Crimella C.; Tonelli A.; Airoldi G.; Baschirotto C.; D'Angelo M.G.; Bonato S.; Losito L.; Trabacca A.; Bresolin N.; Bassi M.T.;
J. Med. Genet. 47:712-716(2010)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT CMT2K SER-226; GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Pezzini I.; Geroldi A.; Capponi S.; Gulli R.; Schenone A.; Grandis M.; Doria-Lamba L.; La Piana C.; Cremonte M.; Pisciotta C.; Nolano M.; Manganelli F.; Santoro L.; Mandich P.; Bellone E.;
Neuromuscul. Disord. 26:26-32(2016)
Cited for: VARIANTS CMT2K GLY-120; TRP-120; ARG-123; GLU-218 AND SER-226;

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.