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UniProtKB/Swiss-Prot Q27J81: Variant p.Glu184Lys

Inverted formin-2
Gene: INF2
Variant information

Variant position:  184
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glutamate (E) to Lysine (K) at position 184 (E184K, p.Glu184Lys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and acidic (E) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CMTDIE and FSGS5.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  184
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1249
The length of the canonical 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.





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.

Chain 2 – 1249 Inverted formin-2
Domain 2 – 330 GBD/FH3

Literature citations

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)

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;

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;

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
Roos A.; Weis J.; Korinthenberg R.; Fehrenbach H.; Haeusler M.; Zuechner S.; Mache C.; Hubmann H.; Auer-Grumbach M.; Senderek J.;
J. Peripher. Nerv. Syst. 20:52-59(2015)
Cited for: VARIANTS CMTDIE ARG-57; SER-68; ARG-77 AND LYS-184;

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.