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UniProtKB/Swiss-Prot P61011 : Variant p.Cys118Tyr
Signal recognition particle 54 kDa protein
Gene: SRP54
Variant information
Variant position: 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]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 Cysteine (C) to Tyrosine (Y) at position 118 (C118Y, p.Cys118Tyr).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 (C) to large size and aromatic (Y)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2The 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 SCN8; decreased granulocyte proliferation; increased apoptosis.Any additional useful information about the variant.
Sequence information
Variant position: 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 504 The length of the canonical sequence.
Location on the sequence:
KGKQNVIMFVGLQGSGKTTT
C SKLAYYYQRKGWKTCLICAD
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 KGKQNVIMFVGLQGSGKTTTC SKLAYYYQRKGWKTCLICAD
KGKQNVIMFVGLQGSGKTTTC SKLAYYYQRKGWKTCLICAD
Mouse KGKQNVIMFVGLQGSGKTTTC SKLAYYYQRKGWKTCLICAD
Rat KGKQNVIMFVGLQGSGKTTTC SKLAYFYQRKGWKTCLICAD
Bovine KGKQNVIMFVGLQGSGKTTTC SKLAYYYQRKGWKTCLICAD
Zebrafish KGKNNVIMFVGLQGSGKTTTC SKLAYYFQRKGWKTCLICAD
Slime mold KGKSNIVMFVGLQGAGKTTSV TKLAYFYKKKGFSTAIVCAD
Baker's yeast KRKTNIIMFVGLQGSGKTTSC TKLAVYYSKRGFKVGLVCAD
Fission yeast KGRPSVIMMVGLQGSGKTTTC SKLALHYQRRGLKSCLVAAD
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 – 504
Signal recognition particle 54 kDa protein
Region
1 – 295
NG domain
Helix
114 – 127
Literature citations
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanne-Chantelot C.; Schmaltz-Panneau B.; Marty C.; Fenneteau O.; Callebaut I.; Clauin S.; Docet A.; Damaj G.L.; Leblanc T.; Pellier I.; Stoven C.; Souquere S.; Antony-Debre I.; Beaupain B.; Aladjidi N.; Barlogis V.; Bauduer F.; Bensaid P.; Boespflug-Tanguy O.; Berger C.; Bertrand Y.; Carausu L.; Fieschi C.; Galambrun C.; Schmidt A.; Journel H.; Mazingue F.; Nelken B.; Quah T.C.; Oksenhendler E.; Ouachee M.; Pasquet M.; Saada V.; Suarez F.; Pierron G.; Vainchenker W.; Plo I.; Donadieu J.;
Blood 132:1318-1331(2018)
Cited for: FUNCTION; DEVELOPMENTAL STAGE; SUBCELLULAR LOCATION; VARIANTS SCN8 ARG-113; THR-117 DEL; TYR-118; TYR-136; ASP-223; GLU-226 AND ASP-274; CHARACTERIZATION OF VARIANTS SCN8 THR-117 DEL; TYR-118; TYR-136 AND ASP-223;
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.