Variant position:  268

Type of variant:  LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.]

Residue change:  From Isoleucine (I) to Threonine (T) at position 268 (I268T, p.Ile268Thr).

Physico-chemical properties:  Change from medium size and hydrophobic (I) to medium size and polar (T)

BLOSUM score:  -1

Variant description:  In HIDS and MEVA.

Other resources:  

• Variant rs104895304 [ dbSNP | Ensembl ]

Variant position:  268

Protein sequence length:  396

Location on the sequence:   AGVRNRLLKFPEIVAPLLTS  I DAISLECERVLGEMGEAPAP

Residue conservation: 

Human                         AGVRNRL-LKFPEIVAPLLTSIDAISLECERVLGEMGEAPAP

Mouse                         AAVRSRL-TKFPEIVAPLLTSIDAISLECERVLGEMVAAPV

Rat                           AGVRSRL-IKFPEIMAPLLTSIDAISLECERVLGEMAAAPV

Bovine                        ANVRSRL-LKFPEIVAPLLTSIDAISLECERVLGEMAAAPT

Slime mold                    EGVIQRS-KLYPTLIDPVSNLIDTISSQCIESFNQYHTDKD

Baker's yeast                 ARVRVLVTEKFPEVMKPILDAMGECALQGLEIMTKLSKCKG

Fission yeast                 QGVFELK-ERLPTVIDSIIDAIDGISKSAVLALTSESDKNS

Sequence annotation in neighborhood:  

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten S.M.; Koster J.; Romeijn G.-J.; Frenkel J.; Di Rocco M.; Caruso U.; Landrieu P.; Kelley R.I.; Kuis W.; Poll-The B.T.; Gibson K.M.; Wanders R.J.A.; Waterham H.R.;
Eur. J. Hum. Genet. 9:253-259(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIDS PRO-20; PRO-39; LEU-135; THR-148; THR-268 AND ILE-377; VARIANTS MEVA PRO-20; PHE-264; THR-268; MET-310 AND THR-334;

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
Hinson D.D.; Ross R.M.; Krisans S.; Shaw J.L.; Kozich V.; Rolland M.-O.; Divry P.; Mancini J.; Hoffmann G.F.; Gibson K.M.;
Am. J. Hum. Genet. 65:327-335(1999)
Cited for: VARIANTS MEVA ILE-243; PHE-264; PRO-265 AND THR-268;

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten S.M.; Kuis W.; Duran M.; de Koning T.J.; van Royen-Kerkhof A.; Romeijn G.J.; Frenkel J.; Dorland L.; de Barse M.M.J.; Huijbers W.A.R.; Rijkers G.T.; Waterham H.R.; Wanders R.J.A.; Poll-The B.T.;
Nat. Genet. 22:175-177(1999)
Cited for: VARIANTS HIDS PRO-20; THR-268 AND ILE-377;

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome.
Drenth J.P.H.; Cuisset L.; Grateau G.; Vasseur C.; van der Velde-Visser S.D.; de Jong J.G.N.; Beckmann J.S.; van der Meer J.W.M.; Delpech M.;
Nat. Genet. 22:178-181(1999)
Cited for: VARIANTS HIDS LEU-167; THR-268 AND ILE-377;

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Cuisset L.; Drenth J.P.H.; Simon A.; Vincent M.-F.; van der Velde-Visser S.D.; van der Meer J.W.M.; Grateau G.; Delpech M.;
Eur. J. Hum. Genet. 9:260-266(2001)
Cited for: VARIANTS HIDS ASN-20; PRO-20; PRO-39; LEU-150; LEU-167; ARG-202; GLN-215; THR-268; SER-309; ARG-326 AND ILE-377; VARIANT MEVA THR-334; VARIANT ASN-52;

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
D'Osualdo A.; Picco P.; Caroli F.; Gattorno M.; Giacchino R.; Fortini P.; Corona F.; Tommasini A.; Salvi G.; Specchia F.; Obici L.; Meini A.; Ricci A.; Seri M.; Ravazzolo R.; Martini A.; Ceccherini I.;
Eur. J. Hum. Genet. 13:314-320(2005)
Cited for: VARIANTS HIDS GLN-20; ILE-132; THR-148; ARG-171; GLU-211; GLN-215; ILE-250; ARG-265; THR-268; MET-310; VAL-376 AND ILE-377; VARIANTS ASN-52 AND MET-356;