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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q01453: Variant p.Thr118Met

Peripheral myelin protein 22
Gene: PMP22
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Variant information Variant position: help 118 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 Threonine (T) to Methionine (M) at position 118 (T118M, p.Thr118Met). 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 polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CMT1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 160 The length of the canonical sequence.
Location on the sequence: help ITGIFQILAGLCVMSAAAIY T VRHPEWHLNSDYSYGFAYIL 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                         ITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYIL

Mouse                         ITGFFQILAGLCVMSAAAIYTVRHSEWHVNTDYSYGFAYIL

Rat                           ITGVFQILAGLCVMSAAAIYTVRHSEWHVNNDYSYGFAYIL

Bovine                        ITGVFQILAGLCVMSAASIYTVRHPEWHFNSDGSYGFAYIL

Horse                         ITGIFQILAGLCVMSAASIYTVRHPEWHLDSAYSYGFAYIL
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 – 160 Peripheral myelin protein 22
Transmembrane 96 – 119 Helical



Literature citations
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Roa B.B.; Garcia C.A.; Pentao L.; Killian J.M.; Trask B.J.; Suter U.; Snipes G.J.; Ortiz-Lopez R.; Shooter E.M.; Patel P.I.; Lupski J.R.;
Nat. Genet. 5:189-194(1993)
Cited for: VARIANTS DSS LYS-69 AND LEU-72; VARIANTS CMT1A CYS-79 AND MET-118; PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
Nelis E.; Holmberg B.; Adolfsson R.; Holmgren G.; van Broeckhoven C.;
Nat. Genet. 15:13-14(1997)
Cited for: VARIANT MET-118; Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
Sorour E.; Upadhyaya M.;
Hum. Mutat. Suppl. 1:S242-S247(1998)
Cited for: VARIANT MET-118; Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Mersiyanova I.V.; Ismailov S.M.; Polyakov A.V.; Dadali E.L.; Fedotov V.P.; Nelis E.; Loefgren A.; Timmerman V.; Van Broeckhoven C.; Evgrafov O.V.;
Hum. Mutat. 15:340-347(2000)
Cited for: VARIANTS CMT1A 25-VAL-SER-26 DEL AND ARG-147; VARIANT MET-118; T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Shy M.E.; Scavina M.T.; Clark A.; Krajewski K.M.; Li J.; Kamholz J.; Kolodny E.; Szigeti K.; Fischer R.A.; Saifi G.M.; Scherer S.S.; Lupski J.R.;
Ann. Neurol. 59:358-364(2006)
Cited for: VARIANT CNT1A MET-118;
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.