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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q4ADV7: Variant p.Arg1265Pro

Guanine nucleotide exchange factor subunit RIC1
Gene: RIC1
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Variant information Variant position: help 1265 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Proline (P) at position 1265 (R1265P, p.Arg1265Pro). 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: help Change from large size and basic (R) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CATIFA; patient cells contain normally spliced transcripts corresponding to protein variant P-1265 but also transcripts that fail to splice due to intron 24 retention leading to a stop codon at position 1266; loss-of-function variant affecting procollagen secretion. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1265 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1423 The length of the canonical sequence.
Location on the sequence: help LEHISMELASKGPHKSQVQL R YLLHIFMEAGCLDWCIVIGL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LEHISMELASKGPHKSQVQLRYLLHIFMEAGCLDWCIVIGL

Mouse                         LEHISMELASKGPHKSQVQLRYLLHIFMEAGCLDWCVVIGL

Zebrafish                     --HPSIVLFIHSSFYPSIHPSFHPSIHP-----------SI

Caenorhabditis elegans        TDFLVGEKSSRGNLQSSHQLELLLSLFSQTATIDWIFLFCL

Drosophila                    EDDLAVDIL---PQKLSIKLRYLLQLFIEANCTDYALVLSI

Baker's yeast                 ------------------------------DSWDMCFQLIR

Fission yeast                 -----------------------------------------
Sequence annotation in neighborhood: help 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 – 1423 Guanine nucleotide exchange factor subunit RIC1
Alternative sequence 1166 – 1423 Missing. In isoform 2.



Literature citations
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N.; Anand D.; Monies D.; Maddirevula S.; Khan A.O.; Algoufi T.; Alowain M.; Faqeih E.; Alshammari M.; Qudair A.; Alsharif H.; Aljubran F.; Alsaif H.S.; Ibrahim N.; Abdulwahab F.M.; Hashem M.; Alsedairy H.; Aldahmesh M.A.; Lachke S.A.; Alkuraya F.S.;
Hum. Genet. 136:205-225(2017)
Cited for: VARIANT CATIFA PRO-1265; INVOLVEMENT IN CATIFA; Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
Unlu G.; Qi X.; Gamazon E.R.; Melville D.B.; Patel N.; Rushing A.R.; Hashem M.; Al-Faifi A.; Chen R.; Li B.; Cox N.J.; Alkuraya F.S.; Knapik E.W.;
Nat. Med. 26:98-109(2020)
Cited for: VARIANTS CATIFA PRO-1265 AND 1266-TYR--SER-1423 DEL; CHARACTERIZATION OF VARIANTS CATIFA PRO-1265 AND 1266-TYR--SER-1423 DEL; INVOLVEMENT IN CATIFA; FUNCTION;
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.