Sequence information
Variant position: 136 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:
TTCSKLAYYYQRKGWKTCLI
C ADTFRAGAFDQLKQNATKAR
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 TTCSKLAYYYQRKGWKTCLIC ADTFRAGAFDQLKQNATKAR
TTCSKLAYYYQRKGWKTCLIC ADTFRAGAFDQLKQNATKAR
Mouse TTCSKLAYYYQRKGWKTCLIC ADTFRAGAFDQLKQNATKAR
Rat TTCSKLAYFYQRKGWKTCLIC ADTFRAGAFDQLKQNATKAR
Bovine TTCSKLAYYYQRKGWKTCLIC ADTFRAGAFDQLKQNATKAR
Zebrafish TTCSKLAYYFQRKGWKTCLIC ADTFRAGAFDQLKQNATKAR
Slime mold TSVTKLAYFYKKKGFSTAIVC ADTFRAGAFDQVRHNAAKAK
Baker's yeast TSCTKLAVYYSKRGFKVGLVC ADTFRAGAFDQLKQNAIRAR
Fission yeast TTCSKLALHYQRRGLKSCLVA ADTFRAGAFDQLKQNAIKAR
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
Beta strand
132 – 136
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.