Sequence information
Variant position: 454 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 509 The length of the canonical sequence.
Location on the sequence:
AGIKAELLYKKNPKLLNQLQ
Y CEEAGIPLVAIIGEQELKDG
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 AGIKAELLYKKNPKLLNQLQY CEEAGIPLVAIIGEQELKDG
Mouse AGIKAELLYKKNPKLLNQLQY CEEAGIPLVAIIGEQELKDG
Bovine AGIKAELLYKKNPKLLNQLQY CEETGIPLVAIIGEQELKDG
Zebrafish AGIKAEVLYKKNPKLLSQLQH CEDTGIPLVAILGEQELKDG
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
2 – 509
Histidine--tRNA ligase, cytoplasmic
Helix
448 – 458
Literature citations
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger E.G.; Jinks R.N.; Sougnez C.; Cibulskis K.; Willert R.A.; Achilly N.P.; Cassidy R.P.; Fiorentini C.J.; Heiken K.F.; Lawrence J.J.; Mahoney M.H.; Miller C.J.; Nair D.T.; Politi K.A.; Worcester K.N.; Setton R.A.; Dipiazza R.; Sherman E.A.; Eastman J.T.; Francklyn C.; Robey-Bond S.; Rider N.L.; Gabriel S.; Morton D.H.; Strauss K.A.;
PLoS ONE 7:E28936-E28936(2012)
Cited for: VARIANT USH3B SER-454;
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.