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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5IJ48: Variant p.Arg1249Gln

Protein crumbs homolog 2
Gene: CRB2
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Variant information Variant position: help 1249 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 Glutamine (Q) at position 1249 (R1249Q, p.Arg1249Gln). 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 polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In FSGS9. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1285 The length of the canonical sequence.
Location on the sequence: help AACACLLLLLLGLLSGILAA R KRRQSEGTYSPSQQEVAGAR 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                         AACACLLLLLLGLLSGILAARKRRQSEGTYSPSQQEVAGAR

Mouse                         AACACLLLLLLGLLSGILAARKRRQSEGTYSPSQQEVAGAR
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 29 – 1285 Protein crumbs homolog 2
Region 1249 – 1285 Interaction with EPB41L5
Alternative sequence 1177 – 1285 Missing. In isoform 2.
Mutagenesis 1258 – 1258 Y -> A. No effect on secretion of APP amyloid-beta peptide 40 and amyloid-beta peptide 42; when associated with P-1260 and E-1264.
Mutagenesis 1260 – 1260 P -> A. No effect on secretion of APP amyloid-beta peptide 40 and amyloid-beta peptide 42; when associated with Y-1258 and E-1264.
Mutagenesis 1264 – 1264 E -> A. No effect on secretion of APP amyloid-beta peptide 40 and amyloid-beta peptide 42; when associated with Y-1258 and P-1260.



Literature citations
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Ebarasi L.; Ashraf S.; Bierzynska A.; Gee H.Y.; McCarthy H.J.; Lovric S.; Sadowski C.E.; Pabst W.; Vega-Warner V.; Fang H.; Koziell A.; Simpson M.A.; Dursun I.; Serdaroglu E.; Levy S.; Saleem M.A.; Hildebrandt F.; Majumdar A.;
Am. J. Hum. Genet. 96:153-161(2015)
Cited for: INVOLVEMENT IN FSGS9; VARIANTS FSGS9 SER-620; CYS-628; SER-629 AND GLN-1249; CHARACTERIZATION OF VARIANTS FSGS9 SER-620 AND SER-629;
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.