Variant position: 1675 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1807 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 EDFKLGTIK-GQFNFVHVIVT PLDYECNLVSLQCRKD----------MEGL----V
Mouse EDFKLGTIKQGQFNFVHVIIT PLDYKCNLLTLQCRKDGPAC
Rat EDFKLGTIK-GQFNFVHVIIT PLDYKCNLLTLQCRKD----
Fission yeast LEYDFDTIP-SQFNFVNIVIT PESESIRRTGRQIK------
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.
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
Maheshwar M.M.; Cheadle J.P.; Jones A.C.; Myring J.; Fryer A.E.; Harris P.C.; Sampson J.R.;
Hum. Mol. Genet. 6:1991-1996(1997)
Cited for: VARIANTS TSC2 PHE-1509 DEL; MET-1594; LYS-1643; SER-1651; LEU-1675 AND LYS-1681;
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 TSC2 ARG-137; GLN-611; ASN-647; ARG-717; GLU-769; MET-963 AND LEU-1675; VARIANT PHE-320; POSSIBLE ASSOCIATION WITH TSC;
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
Feng J.-H.; Yamamoto T.; Nanba E.; Ninomiya H.; Oka A.; Ohno K.;
Hum. Mutat. 23:397-397(2004)
Cited for: VARIANTS TSC2 SER-1651; PHE-1653; LEU-1675 AND 1746-HIS--ARG-1751 DEL; VARIANTS THR-607; VAL-862; SER-1429 AND ARG-1450;
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.