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UniProtKB/Swiss-Prot Q13702: Variant p.Gln8Lys

43 kDa receptor-associated protein of the synapse
Variant information

Variant position:  8
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Glutamine (Q) to Lysine (K) at position 8 (Q8K, p.Gln8Lys).
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 medium size and polar (Q) to large size and basic (K)
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

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  8
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  412
The length of the canonical sequence.

Location on the sequence:   MGQDQTK  Q QIEKGLQLYQSNQTEKALQV
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                         MGQDQTKQQIEKGLQLYQSNQTEKALQV

Mouse                         MGQDQTKQQIEKGLQLYQSNQTEKALQV

Chicken                       MGQDQTKQQIEKGLHLYQSNQTEKALQV

Caenorhabditis elegans        MGQRQAKQHMQAGVKLYHQRHYAQAINK

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.

Initiator methionine 1 – 1 Removed
Chain 2 – 412 43 kDa receptor-associated protein of the synapse
Repeat 6 – 39 TPR 1
Lipidation 2 – 2 N-myristoyl glycine

Literature citations

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
Ohno K.; Engel A.G.; Shen X.-M.; Selcen D.; Brengman J.; Harper C.M.; Tsujino A.; Milone M.;
Am. J. Hum. Genet. 70:875-885(2002)

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)

Identification of pathogenic mutations in the human rapsyn gene.
Dunne V.; Maselli R.A.;
J. Hum. Genet. 48:204-207(2003)
Cited for: VARIANTS CMS11 PRO-14 AND LYS-88;

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
Maselli R.A.; Dunne V.; Pascual-Pascual S.I.; Bowe C.; Agius M.; Frank R.; Wollmann R.L.;
Muscle Nerve 28:293-301(2003)
Cited for: VARIANTS CMS11 PRO-14 AND LYS-88;

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Mueller J.S.; Mildner G.; Mueller-Felber W.; Schara U.; Krampfl K.; Petersen B.; Petrova S.; Stucka R.; Mortier W.; Bufler J.; Kurlemann G.; Huebner A.; Merlini L.; Lochmuller H.; Abicht A.;
Neurology 60:1805-1810(2003)
Cited for: VARIANT CMS11 LYS-88;

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Burke G.; Cossins J.; Maxwell S.; Owens G.; Vincent A.; Robb S.; Nicolle M.; Hilton-Jones D.; Newsom-Davis J.; Palace J.; Beeson D.;
Neurology 61:826-828(2003)
Cited for: VARIANT CMS11 LYS-88;

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
Banwell B.L.; Ohno K.; Sieb J.P.; Engel A.G.;
Neuromuscul. Disord. 14:202-207(2004)
Cited for: VARIANT CMS11 LYS-88;

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
Ioos C.; Barois A.; Richard P.; Eymard B.; Hantai D.; Estournet-Mathiaud B.;
Neuropediatrics 35:246-249(2004)
Cited for: VARIANT CMS11 LYS-88;

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.