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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q01453: Variant p.Ser72Leu

Peripheral myelin protein 22
Gene: PMP22
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Variant information Variant position: help 72 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 Serine (S) to Leucine (L) at position 72 (S72L, p.Ser72Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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 DSS and CMT1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 72 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 HCFSSSPNEWLQSVQATMIL S IIFSILSLFLFFCQLFTLTK 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                         HCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTK

Mouse                         HCYSSSVSEWLQSVQATMILSVIFSVLALFLFFCQLFTLTK

Rat                           HCYSSSVSEWLQSVQATMILSVIFSVLSLFLFFCQLFTLTK

Bovine                        HCFSSSANEWLQSVQATMILSIIFSVLSLFLFFCQLFTLTK

Horse                         HCLSSSANEWLQSVQATMILSIIFSVLSLFLFFCQLFTLTK
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 65 – 91 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; Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Roa B.B.; Dyck P.J.; Marks H.G.; Chance P.F.; Lupski J.R.;
Nat. Genet. 5:269-273(1993)
Cited for: VARIANTS DSS LYS-69 AND LEU-72; Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
Ionasescu V.V.; Ionasescu R.; Searby C.C.; Neahring R.;
Neurology 45:1766-1767(1995)
Cited for: VARIANT DSS LEU-72; Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
Ionasescu V.V.; Searby C.; Greenberg S.A.;
J. Med. Genet. 33:1048-1049(1996)
Cited for: VARIANT DSS LEU-72; Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible 'hot spot' on Ser72.
Marques W. Jr.; Thomas P.K.; Sweeney M.G.; Carr L.; Wood N.W.;
Ann. Neurol. 43:680-683(1998)
Cited for: VARIANTS DSS LEU-72 AND GLU-100; Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients.
Bissar-Tadmouri N.; Parman Y.; Boutrand L.; Deymeer F.; Serdaroglu P.; Vandenberghe A.; Battaloglu E.;
Clin. Genet. 58:396-402(2000)
Cited for: VARIANT CMT1A LEU-72; Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.
Mostacciuolo M.L.; Righetti E.; Zortea M.; Bosello V.; Schiavon F.; Vallo L.; Merlini L.; Siciliano G.; Fabrizi G.M.; Rizzuto N.; Milani M.; Baratta S.; Taroni F.;
Hum. Mutat. 18:32-41(2001)
Cited for: VARIANTS DSS LEU-72 AND ARG-109; Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C.; Lin C.; Ikegami T.; Guldberg P.; Hayasaka K.;
Hum. Mutat. 20:392-398(2002)
Cited for: VARIANT CMT1A LEU-72;
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.