Variant position: 105 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 SGRGVARISDALLQLTCVSC VRAVMNSRQGIEYILSNQGYV
Mouse SGRGVARISDALLQLTCISC VRAVMNSQQGIEYILSNQGYV
Xenopus laevis SGRGVARIADALLQLTCINC VRTLMNSHKGIEYIVNNEGYV
Xenopus tropicalis SGRGVARIADALLQLTCINC VRTLMNSHRGIEYIVNNEGYV
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
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
Caridi G.; Lugani F.; Dagnino M.; Gigante M.; Iolascon A.; Falco M.; Graziano C.; Benetti E.; Dugo M.; Del Prete D.; Granata A.; Borracelli D.; Moggia E.; Quaglia M.; Rinaldi R.; Gesualdo L.; Ghiggeri G.M.;
Nephrol. Dial. Transplant. 29:IV80-IV86(2014)
Cited for: VARIANTS CMTDIE GLY-105 AND LYS-184; VARIANTS FSGS5 ARG-162; TYR-168 DEL; CYS-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.