Home  |  Contact

UniProtKB/Swiss-Prot P25189: Variant p.Arg227Ser

Myelin protein P0
Gene: MPZ
Variant information

Variant position:  227
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 Arginine (R) to Serine (S) at position 227 (R227S, p.Arg227Ser).
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 large size and basic (R) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In CMT1B.
Any additional useful information about the variant.



Sequence information

Variant position:  227
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:   KDASKRGRQTPVLYAMLDHS  R STKAVSEKKAKGLGESRKDK
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                         KDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKG-LGESRKDK

Mouse                         KDSSKRGRQTPVLYAMLDHSRSTKAASEKKSKG-LGESRKD

Rat                           KDSSKRGRQTPVLYAMLDHSRSTKAASEKKSKG-LGESRKD

Bovine                        KDASKRGRQTPVLYAMLDHSRSTKAASEKKTKG-LGESRKD

Horse                         KDTSKRGRQTPVLYAMLDHSRSTKAASEKKAKG-LGESRKD

Chicken                       KDASKRSRQPPVLYAMLDHSRSAKAAAEKKSKGAPGEARKD

Xenopus laevis                DSSKRSSRQTPILYAMLDQTRGK--SSEKKAKGGIGDSRKD

Xenopus tropicalis            DSSKRSSRQTPILYAMLDQTRGK--ASEKKGKGGIGDSRKD

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 180 – 248 Cytoplasmic
Region 224 – 248 Disordered
Modified residue 210 – 210 Phosphoserine; by PKC
Modified residue 226 – 226 Phosphoserine
Modified residue 228 – 228 Phosphoserine
Modified residue 233 – 233 Phosphoserine; by PKC
Modified residue 243 – 243 Phosphoserine; by PKC


Literature citations

Phenotypic clustering in MPZ mutations.
Shy M.E.; Jani A.; Krajewski K.; Grandis M.; Lewis R.A.; Li J.; Shy R.R.; Balsamo J.; Lilien J.; Garbern J.Y.; Kamholz J.;
Brain 127:371-384(2004)
Cited for: VARIANTS CMT1B PRO-39; PHE-44; CYS-50 DEL; HIS-98; CYS-123; ARG-130; THR-140 AND SER-227;

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.