Variant position: 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1249 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 RLEGSDGGWMVQFLEQSGLD LLLEALARLSGRGVARISDAL
Mouse RLESSDGGWMVQFLEQSGLD LLLEALARLSGRGVARISDAL
Xenopus laevis RLESSDDEWMCQFLELSGLD LLLEALDRLSGRGVARIADAL
Xenopus tropicalis RLESSDDDWMVQFLELSGLD LLLEALDRLSGRGVARIADAL
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 – 1249 Inverted formin-2
2 – 330 GBD/FH3
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.
Boyer O.; Benoit G.; Gribouval O.; Nevo F.; Tete M.J.; Dantal J.; Gilbert-Dussardier B.; Touchard G.; Karras A.; Presne C.; Grunfeld J.P.; Legendre C.; Joly D.; Rieu P.; Mohsin N.; Hannedouche T.; Moal V.; Gubler M.C.; Broutin I.; Mollet G.; Antignac C.;
J. Am. Soc. Nephrol. 22:239-245(2011)
Cited for: VARIANTS FSGS5 PRO-76; HIS-177; HIS-193; ARG-198; CYS-214; GLN-218 AND LYS-220;
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