Variant position: 214 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 VVTLLSVINAVILGPEDLRA RTQLRNEFIGLQLLDVLARLR
Mouse VVTLLSVINAIILGPEDLRS RAQLRSEFIGLQLLDILTRLR
Xenopus laevis MVTLLSVINAIIFGTEELRN RVQLRNEFIGLQLLDLLTKLR
Xenopus tropicalis MVTLLSAINAIIFGTEELRK RVQLRNEFIGLQLLDLLTKLR
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 the formin gene INF2 cause focal segmental glomerulosclerosis.
Brown E.J.; Schlondorff J.S.; Becker D.J.; Tsukaguchi H.; Tonna S.J.; Uscinski A.L.; Higgs H.N.; Henderson J.M.; Pollak M.R.;
Nat. Genet. 42:72-76(2010)
Cited for: VARIANTS FSGS5 THR-13; PRO-42; LYS-184; PRO-186; ARG-198; HIS-214; TRP-218; GLN-218 AND LYS-220; TISSUE SPECIFICITY; SUBCELLULAR LOCATION;
Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.
Gbadegesin R.A.; Lavin P.J.; Hall G.; Bartkowiak B.; Homstad A.; Jiang R.; Wu G.; Byrd A.; Lynn K.; Wolfish N.; Ottati C.; Stevens P.; Howell D.; Conlon P.; Winn M.P.;
Kidney Int. 81:94-99(2012)
Cited for: VARIANTS FSGS5 HIS-177; GLN-184; ASP-202; ASP-203; CYS-214; HIS-214 AND GLN-218; VARIANTS LYS-183; ASP-547; SER-1096 AND SER-1160;
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 FSGS5 PRO-42; SER-73; LEU-81 DEL; PRO-81; ARG-151; ASP-158; CYS-177; GLY-181; LYS-184; PRO-186; ARG-198; CYS-214; HIS-214; GLN-218; TRP-218 AND LYS-220;
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.