Variant position: 306 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 AGTILYHAHLDIEAFTMDRE VRKIKQGL-GLKFAELVYTGFW
Mouse AGTILYHAHLDIEAFTMDRE VRKIKQGL-GLKFAELVYTGF
Rat AGTILYHAHLDIEAFTMDRE VRKIKQGL-GLKFAELVYTGF
Bovine AGTILYHAHLDIEAFTMDRE VRKIKQGL-GLKFAELVYTGF
Chicken AGTILYHAHLDIEAFTMDRE VRKIKQGL-SLKFSELVYNGF
Xenopus laevis AGTILYQAHLDIEAFTMDRE MRKIKQQL-SQRFAEQIYNGF
Xenopus tropicalis AGTILYQAHLDVEAFTMDRE VRKIKQHL-SQRFAEQIYNGF
Zebrafish GGTVLLQAHLDIETFTMDRE VRKIKQSL-GIKFSELIYNGF
Drosophila GGTILFAAHQDLEVFALDRE VLRTKQVL-RDRMADYVYNGF
Baker's yeast PLTVLRKAHVDLEGLTLDKE VRQLRDSFVTPNYSRLIYNGS
Fission yeast GLTILRTAHMDLEGLTMERE VRALRDQFVTFNLAKILYNGQ
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
Mutations in the human argininosuccinate synthetase (ASS1) gene, impact on patients, common changes, and structural considerations.
Diez-Fernandez C.; Ruefenacht V.; Haeberle J.;
Hum. Mutat. 38:471-484(2017)
Cited for: VARIANTS CTLN1 27-GLN--LYS-412 DEL; ILE-64; PRO-79; 97-CYS--LYS-412 DEL; CYS-100; HIS-100; ASP-111; CYS-117; 138-GLN--LYS-412 DEL; SER-157; PRO-160; 163-TYR--LYS-412 DEL; PRO-164; LYS-184; ASP-190; PRO-206; ARG-230; ILE-237; PRO-258; VAL-258; CYS-265; 275-GLY--LYS-412 DEL; THR-277; 279-ARG--LYS-412 DEL; ILE-284; PRO-290; SER-291; GLY-296; ASP-299; VAL-302; GLY-306; CYS-307; 311-GLN--LYS-412 DEL; MET-321; SER-324; VAL-324; HIS-335; PHE-341; 344-ARG--LYS-412 DEL; ARG-347; VAL-356; 357-GLN--LYS-412 DEL; ASP-359; 380-GLN--LYS-412 DEL AND PRO-389;
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.