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UniProtKB/Swiss-Prot P35240: Variant p.Arg351His

Merlin
Gene: NF2
Chromosomal location: 22q12.2
Variant information

Variant position:  351
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Histidine (H) at position 351 (R351H, p.Arg351His).
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 medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

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



Sequence information

Variant position:  351
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  595
The length of the canonical sequence.

Location on the sequence:   RKQMERQRLAREKQMREEAE  R TRDELERRLLQMKEEATMAN
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                         RKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMAN

Mouse                         RKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMAN

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 1 – 595 Merlin
Compositional bias 327 – 465 Glu-rich
Alternative sequence 150 – 579 Missing. In isoform 9.
Alternative sequence 260 – 595 Missing. In isoform 7.
Alternative sequence 334 – 379 MERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEE -> GQRGRSAEAGPAGSTRGGAKSQAEAPGDCHQAHVPAHEPNSSTVAS. In isoform 10.
Alternative sequence 335 – 363 Missing. In isoform 8.


Literature citations

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.
Sainz J.; Huynh D.P.; Figueroa K.; Ragge N.K.; Baser M.E.; Pulst S.M.;
Hum. Mol. Genet. 3:885-891(1994)
Cited for: VARIANTS GLU-79 AND HIS-351;

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.