Variant position: 172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 514 The length of the canonical sequence.
Location on the sequence:
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 DNKVERIW-----------GDCTVRKK-YSHV DLVVMVDGFEGEKGAVVAGSR
Mouse DNKVERIW-----------GDCTVRKK-YSHV DLVVMVDGF
Rat DNKVERIW-----------GDCTVRKK-YSHV DLVVMVDGF
Bovine DNKVERIW-----------GDCTVRKK-YSHV DLVVMVDGF
Rabbit DNKVERIW-----------GDCTVRKK-YSHV DLVVMVDGF
Zebrafish DNKVERTW-----------GDCTVQKK-YSHV DLVVMVDGY
Caenorhabditis elegans NNKIERTF-----------GDLSTKKK-YSHV DLVVMVDGF
Slime mold NNQIIKTW-----------GECKTSEGLLHHH ELLEMIDGY
Baker's yeast NNELVRTWKPEDLEAVGPIASVTGKPASLSHH EILLRLDGY
Fission yeast NNEIIRKWAPE--------GVTVEKKNCLSHH EVLTRLDGY
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
1 – 514 Serine--tRNA ligase, cytoplasmic
170 – 176
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the aetiology of autosomal recessive intellectual disability.
Musante L.; Puettmann L.; Kahrizi K.; Garshasbi M.; Hu H.; Stehr H.; Lipkowitz B.; Otto S.; Jensen L.R.; Tzschach A.; Jamali P.; Wienker T.; Najmabadi H.; Ropers H.H.; Kuss A.W.;
Hum. Mutat. 38:621-636(2017)
Cited for: VARIANT NEDMAS ASN-172; CHARACTERIZATION OF VARIANT NEDMAS ASN-172; INVOLVEMENT IN NEDMAS; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; MUTAGENESIS OF THR-429;
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.