Sequence information
Variant position: 115 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:
TPTKGKQNVIMFVGLQGSGK
T TTCSKLAYYYQRKGWKTCLI
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 TPTKGKQNVIMFVGLQGSGKT TTCSKLAYYYQRKGWKTCLI
TPTKGKQNVIMFVGLQGSGKT TTCSKLAYYYQRKGWKTCLI
Mouse TPTKGKQNVIMFVGLQGSGKT TTCSKLAYYYQRKGWKTCLI
Rat TPTKGKQNVIMFVGLQGSGKT TTCSKLAYFYQRKGWKTCLI
Bovine TPTKGKQNVIMFVGLQGSGKT TTCSKLAYYYQRKGWKTCLI
Zebrafish TPTKGKNNVIMFVGLQGSGKT TTCSKLAYYFQRKGWKTCLI
Slime mold KPTKGKSNIVMFVGLQGAGKT TSVTKLAYFYKKKGFSTAIV
Baker's yeast VPKKRKTNIIMFVGLQGSGKT TSCTKLAVYYSKRGFKVGLV
Fission yeast TPKKGRPSVIMMVGLQGSGKT TTCSKLALHYQRRGLKSCLV
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.
Literature citations
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R.; Konantz M.; Paillard C.; Miao Z.; Pichot A.; Leduc M.S.; Yang Y.; Bergstrom K.L.; Mahoney D.H.; Shardy D.L.; Alsaleh G.; Naegely L.; Kolmer A.; Paul N.; Hanauer A.; Rolli V.; Mueller J.S.; Alghisi E.; Sauteur L.; Macquin C.; Morlon A.; Sancho C.S.; Amati-Bonneau P.; Procaccio V.; Mosca-Boidron A.L.; Marle N.; Osmani N.; Lefebvre O.; Goetz J.G.; Unal S.; Akarsu N.A.; Radosavljevic M.; Chenard M.P.; Rialland F.; Grain A.; Bene M.C.; Eveillard M.; Vincent M.; Guy J.; Faivre L.; Thauvin-Robinet C.; Thevenon J.; Myers K.; Fleming M.D.; Shimamura A.; Bottollier-Lemallaz E.; Westhof E.; Lengerke C.; Isidor B.; Bahram S.;
J. Clin. Invest. 127:4090-4103(2017)
Cited for: VARIANTS SCN8 ALA-115; THR-117 DEL AND GLU-226; CHARACTERIZATION OF VARIANTS SCN8 ALA-115; THR-117 DEL AND GLU-226; CATALYTIC ACTIVITY; FUNCTION;
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.