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UniProtKB/Swiss-Prot Q92878: Variant p.Ile94Leu

DNA repair protein RAD50
Gene: RAD50
Variant information

Variant position:  94
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Isoleucine (I) to Leucine (L) at position 94 (I94L, p.Ile94Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

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



Sequence information

Variant position:  94
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1312
The length of the canonical sequence.

Location on the sequence:   QETDVRAQIRLQFRDVNGEL  I AVQRSMVCTQKSKKTEFKTL
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                         QETDVRAQIRLQFRDVNGELIAVQRSMVCTQK-SKKTEFKTL

Mouse                         QETDVRAQIRLQFRDVNGEMVAVHRSMLCSQK-NKKTEFKT

Rat                           QETDVRAQIRLQFRDVNGEMVLVQRSMLCSQK-SKKTEFKT

Caenorhabditis elegans        RKTRVDASVTLEFIDVKGRECTAVRRLVVTSG-TKAAALAE

Drosophila                    GLNEVLAQIKMQVRDRRGAQVSICRTMKVSKK-RNKMSFET

Slime mold                    GESEVKAQIKLRFKNPIGKPIVASRSLSLIQKSNKKQEYKQ

Baker's yeast                 GEKDIRAQVKLAFTSANGLNMIVTRNIQLLMK-KTTTTFKT

Fission yeast                 GEKEVLAQVKLAFRNTNQVKMICTRSLQLSVK-KTTRQQKT

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 – 1312 DNA repair protein RAD50
Alternative sequence 1 – 139 Missing. In isoform 3.


Literature citations

Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.
Heikkinen K.; Karppinen S.-M.; Soini Y.; Maekinen M.; Winqvist R.;
J. Med. Genet. 40:E131-E131(2003)
Cited for: VARIANTS LEU-94 AND HIS-224;

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.