Variant position: 438 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 484 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 GGDNDLIERIQVDAYFSPIH SQLDHLLD-PSSFTGRASQQVQ
Mouse GGDNDLIERIRADAYFSPIH SQLEHLLD-PSSFTGRAPQQV
Bovine GGDNDLIERIQADAYFSPIH SQLDHLLD-PSSFTGRASQQV
Chicken GGDNDFIARVRADPYFSPIH EHLDSLLD-PSSFTGRAPQQV
Caenorhabditis elegans KVD---IRQTMADPFFDSVR DRVVGLVNNPINFTGRCVSQT
Slime mold SDIQTFIDSLSIP---DDIK SELK-LIT-PFNYIGIIPDF-
Baker's yeast GGENDLIERVKRDEFFKPIW EELDSLLE-PSTFVGRAPQQV
Fission yeast GGDNDLIERIKNTPYFAPIY DELDSLLD-ASTFVGRAPEQT
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
2 – 484 Adenylosuccinate lyase
398 – 456 Missing. In isoform 2.
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
Stone R.L.; Aimi J.; Barshop B.A.; Jaeken J.; van den Berghe G.; Zalkin H.; Dixon J.E.;
Nat. Genet. 1:59-63(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-484 (ISOFORM 1); VARIANT ADSLD PRO-438;
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.