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UniProtKB/Swiss-Prot Q8IUD6: Variant p.Arg286His

E3 ubiquitin-protein ligase RNF135
Gene: RNF135
Variant information

Variant position:  286
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Histidine (H) at position 286 (R286H, p.Arg286His).
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

Variant description:  Found in an individual with overgrowth, learning disability and dysmorphic features; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  286
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  432
The length of the canonical sequence.

Location on the sequence:   KSLSCSLEVSKDSRTVTVSH  R PQPYRWSCERFSTSQVLCSQ
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                         KSLSCSLEVSKDSRTVTVSHR-PQPYRWSCERFSTSQVLCSQ

Mouse                         RTLSYNLEVSNNSRRVTVSRGDLHTYHWSPQRFSISQVFCS

Rat                           RSLSCNLEVSNNCRMVTVSRA-LQPYHWSSERFSISQVLCS

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 – 432 E3 ubiquitin-protein ligase RNF135
Domain 241 – 432 B30.2/SPRY
Alternative sequence 211 – 432 Missing. In isoform 2.
Alternative sequence 228 – 286 ELLEAPSSSSCPLPDQSHPALRRASRFAQWAIHPTFNLKSLSCSLEVSKDSRTVTVSHR -> SLLPRLECSGTITAASISQAQENSWKPRLPPHAHCLTRATLHSGELLGLLSGPSIQPLT. In isoform 3.


Literature citations

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Douglas J.; Cilliers D.; Coleman K.; Tatton-Brown K.; Barker K.; Bernhard B.; Burn J.; Huson S.; Josifova D.; Lacombe D.; Malik M.; Mansour S.; Reid E.; Cormier-Daire V.; Cole T.; Rahman N.;
Nat. Genet. 39:963-965(2007)
Cited for: VARIANT HIS-286;

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.