Variant position: 417 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1164 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 PA--PLCHSD-DYVHISLPQATV TPPRKEERMDSARPCLHRQHH
Mouse PA--PPCPQD-DCVHGSAAQASA TAPRKEERADSSRPYLHR
Rat PA--PPCPQD-DCAHGPASQASA TPPRKEERADSSRPYLPR
Fission yeast GSSQPDYLESLDYSQLFSILYAL YPINFLEFLRDPKLYASK
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 – 1164 Hamartin
403 – 787 Mediates interaction with WDR45B
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
Zhang H.; Nanba E.; Yamamoto T.; Ninomiya H.; Ohno K.; Mizuguchi M.; Takeshita K.;
J. Hum. Genet. 44:391-396(1999)
Cited for: VARIANTS TSC1 ILE-417; GLU-654 AND SER-899; VARIANT THR-322;
Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
Yamashita Y.; Ono J.; Okada S.; Wataya-Kaneda M.; Yoshikawa K.; Nishizawa M.; Hirayama Y.; Kobayashi E.; Seyama K.; Hino O.;
Am. J. Med. Genet. 90:123-126(2000)
Cited for: VARIANTS THR-322; ILE-417; ASP-577 AND ARG-829;
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.
Pymar L.S.; Platt F.M.; Askham J.M.; Morrison E.E.; Knowles M.A.;
Hum. Mol. Genet. 17:2006-2017(2008)
Cited for: VARIANTS ARG-68; CYS-158; ASP-206; LEU-216 AND ILE-417; CHARACTERIZATION OF VARIANTS ARG-68; CYS-158; ASP-206; LEU-216 AND ILE-417;
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.