Home  |  Contact

UniProtKB/Swiss-Prot P25189: Variant p.Ser78Leu

Myelin protein P0
Gene: MPZ
Variant information

Variant position:  78
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 Serine (S) to Leucine (L) at position 78 (S78L, p.Ser78Leu).
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 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:  -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:  In CMT1B; severe.
Any additional useful information about the variant.

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



Sequence information

Variant position:  78
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  248
The length of the canonical sequence.

Location on the sequence:   VSDDISFTWRYQPEGGRDAI  S IFHYAKGQPYIDEVGTFKER
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.

Human                         VSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKER

Mouse                         VSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGAFKER

Rat                           VSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKER

Bovine                        VSDDLSFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKER

Horse                         VSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKER

Chicken                       ISEDISYTWHFQAEGSRDSISIFHYGKGQPYIDDVGSFKER

Xenopus laevis                ISDDISVTWHYQPDHSREMYSIVHFAKGLSSID-AGIFKDR

Xenopus tropicalis            ISDDVSVTWHYQPDHSREMYSIFHYAKGQPSID-AGVFKDR

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.

TypePositionsDescription
Chain 30 – 248 Myelin protein P0
Topological domain 30 – 153 Extracellular
Domain 30 – 143 Ig-like V-type
Disulfide bond 50 – 127
Beta strand 77 – 83


Literature citations

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
Nelis E.; Timmerman V.; de Jonghe P.; Vandenberghe A.; Pham-Dinh D.; Dautigny A.; Martin J.-J.; van Broeckhoven C.;
Hum. Genet. 94:653-657(1994)
Cited for: VARIANTS CMT1B LEU-78 AND ASN-134;

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
Latour P.; Blanquet F.; Nelis E.; Bonnebouche C.; Chapon F.; Diraison P.; Ollagnon E.; Dautigny A.; Pham-Dinh D.; Chazot G.; Boucherat M.; van Broeckhoven C.; Vandenberghe A.;
Hum. Mutat. 6:50-54(1995)
Cited for: VARIANTS CMT1B LEU-78 AND CYS-101;

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Bort S.; Nelis E.; Timmerman V.; Sevilla T.; Cruz-Martinez A.; Martinez F.; Millan J.M.; Arpa J.; Vilchez J.J.; Prieto F.; van Broeckhoven C.; Palau F.;
Hum. Genet. 99:746-754(1997)
Cited for: VARIANT CMT1B LEU-78; VARIANT DSS CYS-98;

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K.; Meretoja P.; Juvonen V.; Ignatius J.; Pihko H.; Saarinen A.; Wallden T.; Herrgaard E.; Aula P.; Savontaus M.-L.;
Hum. Mutat. 12:59-68(1998)
Cited for: VARIANT CMT1B LEU-78; VARIANT DSS CYS-82;

Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
Fabrizi G.M.; Taioli F.; Cavallaro T.; Rigatelli F.; Simonati A.; Mariani G.; Perrone P.; Rizzuto N.;
Acta Neuropathol. 100:299-304(2000)
Cited for: VARIANT CMT1B LEU-78;

Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
Young P.; Grote K.; Kuhlenbaeumer G.; Debus O.; Kurlemann H.; Halfter H.; Funke H.; Ringelstein E.B.; Stoegbauer F.;
J. Neurol. 248:410-415(2001)
Cited for: VARIANTS CMT1B PHE-51; LEU-78 AND HIS-98;

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel C.F.; Takashima H.; Garcia C.A.; Olney R.K.; Johnson J.; Berry K.; Russo P.; Kennedy S.; Teebi A.S.; Scavina M.; Williams L.L.; Mancias P.; Butler I.J.; Krajewski K.; Shy M.; Lupski J.R.;
Ann. Neurol. 51:190-201(2002)
Cited for: VARIANTS CMT1B LEU-78 AND CYS-82; VARIANTS CMT2I ASN-89; MET-92 AND MET-162; VARIANTS DSS CYS-123 AND GLU-136;

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K.; Benes V.; Thiel C.; Kraus C.; Kress W.; Hoeltzenbein M.; Ploner C.J.; Kotzian J.; Reis A.; Rott H.D.; Rautenstrauss B.W.;
Hum. Mutat. 21:100-100(2003)
Cited for: VARIANT CMT1B LEU-78; VARIANT DSS ASP-110;

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.