Variant position: 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 308 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 QKTDCQKN-LGTVGAVALDCK GNVAYATSTGGIVNKMVGRVG
Mouse QNADCPKN-SGTVGAVALDCR GNLAYATSTGGIVNKMVGRV
Rat QKADCPKN-SGTVGAVALDCK GNLAYATSTGGIVNKMVGRV
Bovine QKPDCQKN-LGTVGAVALDCQ GNLAYATSTGGIVNKMPGRV
Xenopus laevis PVAD-QIG-LGTVGAVAIDCE GNVACATSTGGLTNKMVGRV
Zebrafish NPVECQMGKMGTVGAVAVDMD GNIACATSTGGMINKMEGRV
Drosophila PVPKTDPS-GETVGAVAMDAS GQIVVGTSTGGITGKWPGRI
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
168 – 308 Isoaspartyl peptidase/L-asparaginase beta chain
168 – 168 Nucleophile
168 – 168 T -> AC. Abolishes activation by autocleavage. Abolishes enzyme activity.
168 – 168 T -> S. Strongly reduced enzyme activity.
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Biswas P.; Chavali V.R.; Agnello G.; Stone E.; Chakarova C.; Duncan J.L.; Kannabiran C.; Homsher M.; Bhattacharya S.S.; Naeem M.A.; Kimchi A.; Sharon D.; Iwata T.; Riazuddin S.; Reddy G.B.; Hejtmancik J.F.; Georgiou G.; Riazuddin S.A.; Ayyagari R.;
Hum. Mol. Genet. 25:2483-2497(2016)
Cited for: SUBCELLULAR LOCATION; BIOPHYSICOCHEMICAL PROPERTIES; VARIANT ARG-178; CHARACTERIZATION OF VARIANT ARG-178; CATALYTIC ACTIVITY; FUNCTION;
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.