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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14653: Variant p.Gly144Trp

Golgi SNAP receptor complex member 2
Gene: GOSR2
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Variant information Variant position: help 144 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 Glycine (G) to Tryptophan (W) at position 144 (G144W, p.Gly144Trp). 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 glycine (G) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 EPM6 and MYOS; no effect on protein stability; loss of localization to the cis-Golgi network membrane; loss of function; unable to rescue the yeast strain lacking the ortholog Bos1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 212 The length of the canonical sequence.
Location on the sequence: help LQFNSSLQKVHNGMDDLILD G HNILDGLRTQRLTLKGTQKK 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                         LQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKK

Mouse                         LQFNSSLHNIHHGMDDLIGGGHSILEGLRAQRLTLKGTQKK

Rat                           LQFNSSLQNIHHGMDDLIGGGHSILEGLRAQRLTLKGTQKK

Caenorhabditis elegans        LLLNDRLQSSHTHLDDLISQGSAVLENLKSQHLNLRGVGRK

Drosophila                    LQHHTQLGNAHRGVDDMIASGSGILESLISQRMTLGGAHKR
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 – 212 Golgi SNAP receptor complex member 2
Topological domain 1 – 190 Cytoplasmic



Literature citations
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett M.A.; Schwake M.; Bahlo M.; Dibbens L.M.; Lin M.; Gandolfo L.C.; Vears D.F.; O'Sullivan J.D.; Robertson T.; Bayly M.A.; Gardner A.E.; Vlaar A.M.; Korenke G.C.; Bloem B.R.; de Coo I.F.; Verhagen J.M.; Lehesjoki A.E.; Gecz J.; Berkovic S.F.;
Am. J. Hum. Genet. 88:657-663(2011)
Cited for: VARIANT EPM6 TRP-144; CHARACTERIZATION OF VARIANT EPM6 TRP-144; SUBCELLULAR LOCATION; Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
van Egmond M.E.; Verschuuren-Bemelmans C.C.; Nibbeling E.A.; Elting J.W.; Sival D.A.; Brouwer O.F.; de Vries J.J.; Kremer H.P.; Sinke R.J.; Tijssen M.A.; de Koning T.J.;
Mov. Disord. 29:139-143(2014)
Cited for: VARIANT EPM6 TRP-144; TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of alpha-dystroglycan and muscular dystrophy.
Larson A.A.; Baker P.R. II; Milev M.P.; Press C.A.; Sokol R.J.; Cox M.O.; Lekostaj J.K.; Stence A.A.; Bossler A.D.; Mueller J.M.; Prematilake K.; Tadjo T.F.; Williams C.A.; Sacher M.; Moore S.A.;
Skelet. Muscle 8:17-17(2018)
Cited for: VARIANT MYOS TRP-144; INVOLVEMENT IN MYOS; Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.
Henige H.; Kaur S.; Pappas K.;
Eur. J. Med. Genet. 64:104184-104184(2021)
Cited for: VARIANTS MYOS 28-GLN--THR-212 DEL AND TRP-144;
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.