Variant position: 270 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 931 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 DYFCKCNDCNQKQKHDSFSH SRSRINAYKGLASPAYLSLSS
Mouse DYFCKCTECSQKQKHDSFSH SRSRINAYKGLASPAYLSLSS
Bovine DYFCKCSECNQKQKHDSFSH SRSRINAYKGLASPAYLSLSS
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 – 931 Short transient receptor potential channel 6
1 – 438 Cytoplasmic
268 – 280
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.
Reiser J.; Polu K.R.; Moller C.C.; Kenlan P.; Altintas M.M.; Wei C.; Faul C.; Herbert S.; Villegas I.; Avila-Casado C.; McGee M.; Sugimoto H.; Brown D.; Kalluri R.; Mundel P.; Smith P.L.; Clapham D.E.; Pollak M.R.;
Nat. Genet. 37:739-744(2005)
Cited for: VARIANTS FSGS2 SER-143; THR-270; CYS-895 AND LYS-897; TISSUE SPECIFICITY;
A novel TRPC6 mutation that causes childhood FSGS.
Heeringa S.F.; Moeller C.C.; Du J.; Yue L.; Hinkes B.; Chernin G.; Vlangos C.N.; Hoyer P.F.; Reiser J.; Hildebrandt F.;
PLoS ONE 4:E7771-E7771(2009)
Cited for: VARIANTS SER-15 AND VAL-404; VARIANTS FSGS2 SER-143; THR-270 AND 874-LYS--ARG-931 DEL; CHARACTERIZATION OF VARIANT FSGS2 SER-143; MUTAGENESIS OF MET-132; FUNCTION;
Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
Barua M.; Brown E.J.; Charoonratana V.T.; Genovese G.; Sun H.; Pollak M.R.;
Kidney Int. 83:316-322(2013)
Cited for: VARIANTS FSGS2 THR-270; CYS-895; GLU-897 DEL AND LYS-897;
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