Variant position: 310 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 412 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 LYHAHLDIEAFTMDREVRKI KQGL-GLKFAELVYTGFWHSPE
Mouse LYHAHLDIEAFTMDREVRKI KQGL-GLKFAELVYTGFWHSP
Rat LYHAHLDIEAFTMDREVRKI KQGL-GLKFAELVYTGFWHSP
Bovine LYHAHLDIEAFTMDREVRKI KQGL-GLKFAELVYTGFWHSP
Chicken LYHAHLDIEAFTMDREVRKI KQGL-SLKFSELVYNGFWYSP
Xenopus laevis LYQAHLDIEAFTMDREMRKI KQQL-SQRFAEQIYNGFWYSP
Xenopus tropicalis LYQAHLDVEAFTMDREVRKI KQHL-SQRFAEQIYNGFWYSP
Zebrafish LLQAHLDIETFTMDREVRKI KQSL-GIKFSELIYNGFWFSP
Drosophila LFAAHQDLEVFALDREVLRT KQVL-RDRMADYVYNGFWFSP
Baker's yeast LRKAHVDLEGLTLDKEVRQL RDSFVTPNYSRLIYNGSYFTP
Fission yeast LRTAHMDLEGLTMEREVRAL RDQFVTFNLAKILYNGQFFSP
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 – 412 Argininosuccinate synthase
304 – 323
Postpartum 'psychosis' in mild argininosuccinate synthetase deficiency.
Enns G.M.; O'Brien W.E.; Kobayashi K.; Shinzawa H.; Pellegrino J.E.;
Obstet. Gynecol. 105:1244-1246(2005)
Cited for: VARIANT CTLN1 ARG-310;
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.