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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15553: Variant p.Glu148Gln

Pyrin
Gene: MEFV
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Variant information Variant position: help 148 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamate (E) to Glutamine (Q) at position 148 (E148Q, p.Glu148Gln). 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: help Change from medium size and acidic (E) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 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: help In ARFMF and ADFMF; likely benign. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 148 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 781 The length of the canonical sequence.
Location on the sequence: help EGNGPRPYGGGAASLRCSQP E AGRGLSRKPLSKRREKASEG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRRE-KASEG

Mouse                         EGDGTQQNNDESDTLPSSQAEVGKGPQKKSLTKRKDQRGPE

Rat                           GEDEAQQNDDESDILPPIQAEVGKGPQKKSLAKRKDQRGPE
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 781 Pyrin
Region 93 – 226 Disordered
Alternative sequence 93 – 303 Missing. In isoform 2 and isoform 3.



Literature citations
MEFV-Gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
Cazeneuve C.; Sarkisian T.; Pecheux C.; Dervichian M.; Nedelec B.; Reinert P.; Ayvazyan A.; Kouyoumdjian J.-C.; Ajrapetyan H.; Delpech M.; Goossens M.; Dode C.; Grateau G.; Amselem S.;
Am. J. Hum. Genet. 65:88-97(1999)
Cited for: VARIANTS ARFMF GLN-148; SER-369; GLN-408; LEU-479; ILE-680; VAL-694; ALA-726 AND HIS-761; MEFV mutations in Turkish patients suffering from familial Mediterranean fever.
Akar N.; Misiroglu M.; Yalcinkaya F.; Akar E.; Cakar N.; Tumer N.; Akcakus M.; Tastan H.; Matzner Y.;
Hum. Mutat. 15:118-119(2000)
Cited for: VARIANTS ARFMF GLN-148; ILE-680; ILE-694; VAL-694; ARG-695; ALA-726 AND HIS-761; The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?
Ben-Chetrit E.; Lerer I.; Malamud E.; Domingo C.; Abeliovich D.;
Hum. Mutat. 15:385-386(2000)
Cited for: VARIANT GLN-148; Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity.
Domingo C.; Touitou I.; Bayou A.; Ozen S.; Notarnicola C.; Dewalle M.; Demaille J.; Buades R.; Sayadat C.; Levy M.; Ben-Chetrit E.;
Eur. J. Hum. Genet. 8:242-246(2000)
Cited for: VARIANTS ARFMF PRO-110; GLN-148 AND VAL-694; The genetic basis of autosomal dominant familial Mediterranean fever.
Booth D.R.; Gillmore J.D.; Lachmann H.J.; Booth S.E.; Bybee A.; Soytuerk M.; Akar S.; Pepys M.B.; Tunca M.; Hawkins P.N.;
QJM 93:217-221(2000)
Cited for: VARIANTS ADFMF GLN-148; ILE-680; ILE-694; MET-694 DEL AND VAL-694; Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
Medlej-Hashim M.; Serre J.-L.; Corbani S.; Saab O.; Jalkh N.; Delague V.; Chouery E.; Salem N.; Loiselet J.; Lefranc G.; Megarbane A.;
Eur. J. Med. Genet. 48:412-420(2005)
Cited for: VARIANTS ARFMF ARG-108; GLN-148; VAL-148; ASP-167; ILE-177; ILE-267; LYS-474; LEU-479; HIS-653; ILE-680; ILE-694; VAL-694; ARG-695; MET-720; ALA-726; SER-744 AND HIS-761; Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).
Gunesacar R.; Celik M.M.; Arica V.; Elmacioglu S.; Ozturk O.H.;
Gene 546:195-199(2014)
Cited for: VARIANTS ARFMF PRO-110; GLN-148; TRP-196; LYS-230; VAL-247; LEU-283; ARG-304; ALA-632; ILE-680; ILE-694; VAL-694; ARG-695; ALA-726; SER-744 AND HIS-761; VARIANT GLN-202;
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.