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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9C091: Variant p.Gly273Val

GREB1-like protein
Gene: GREB1L
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Variant information Variant position: help 273 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 Glycine (G) to Valine (V) at position 273 (G273V, p.Gly273Val). 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 glycine (G) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 RHDA3. Any additional useful information about the variant.


Sequence information Variant position: help 273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1923 The length of the canonical sequence.
Location on the sequence: help SSSVSSTVTPENGTTNGYKS G FTQTDAANGNSSHGGKGSAS 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                         SSSVSSTVTPENGTTNGYK-SGFTQTDAA-----NGNSS------------------HGGK---------------------GSAS

Mouse                         ISSVSSAVAPENGTANGYK-AGFTVTEAA-----NGTSG--

Zebrafish                     SSS-SSLSSKENGDTNGHSPSPFPLSDSPPARMQSGSSSGI

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 – 1923 GREB1-like protein
Region 246 – 326 Disordered
Compositional bias 246 – 317 Polar residues



Literature citations
Exome-wide association study identifies GREB1L mutations in congenital kidney malformations.
Sanna-Cherchi S.; Khan K.; Westland R.; Krithivasan P.; Fievet L.; Rasouly H.M.; Ionita-Laza I.; Capone V.P.; Fasel D.A.; Kiryluk K.; Kamalakaran S.; Bodria M.; Otto E.A.; Sampson M.G.; Gillies C.E.; Vega-Warner V.; Vukojevic K.; Pediaditakis I.; Makar G.S.; Mitrotti A.; Verbitsky M.; Martino J.; Liu Q.; Na Y.J.; Goj V.; Ardissino G.; Gigante M.; Gesualdo L.; Janezcko M.; Zaniew M.; Mendelsohn C.L.; Shril S.; Hildebrandt F.; van Wijk J.A.E.; Arapovic A.; Saraga M.; Allegri L.; Izzi C.; Scolari F.; Tasic V.; Ghiggeri G.M.; Latos-Bielenska A.; Materna-Kiryluk A.; Mane S.; Goldstein D.B.; Lifton R.P.; Katsanis N.; Davis E.E.; Gharavi A.G.;
Am. J. Hum. Genet. 101:789-802(2017)
Cited for: INVOLVEMENT IN RHDA3; VARIANTS RHDA3 13-ARG--VAL-1923 DEL; HIS-128; VAL-273; GLY-497; GLN-761; PRO-1066; 1099-GLN--VAL-1923 DEL; ALA-1549; 1560-TYR--VAL-1923 DEL; PRO-1567; ILE-1615; THR-1655; CYS-1664; MET-1690 AND HIS-1884; CHARACTERIZATION OF VARIANTS RHDA3 VAL-926; PRO-1066; PRO-1567; THR-1655 AND MET-1690; CHARACTERIZATION OF VARIANTS GLN-241 AND VAL-926;
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.