Sequence information
Variant position: 654 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:
NTEEDGVPSTSPMEVLDRLI
Q QGADAHSKELNKLPLPSKSV
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 NTEEDGVPSTSPMEVLDRLIQ QGADAHSKELNKLPLPSKSV
Mouse NPEEDCVPSTSPMEVLDRLIE QGAGAHSKELSRLSLPSKSV
Rat NPEEDCVPSTSPMEVLDRLLE QGAGAHSKELSRLSLPSKSV
Fission yeast TSYSEGVSSI-------HMVK GERGSNNLELTSESLSST--
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
Chain
1 – 1164
Hamartin
Region
403 – 787
Mediates interaction with WDR45B
Literature citations
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;
Disclaimer:
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.