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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9C091: Variant p.Ala926Val

GREB1-like protein
Gene: GREB1L
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Variant information Variant position: help 926
Type of variant: help LB/B
Residue change: help From Alanine (A) to Valine (V) at position 926 (A926V, p.Ala926Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Variant description: help Able to rescue renal hypoplasia in zebrafish morphants.
Other resources: help


Sequence information Variant position: help 926
Protein sequence length: help 1923
Location on the sequence: help VRCYLLIQQYSEALMALTTM A SLRDHSTPETLSIMDDLISS
Residue conservation: help 
Human                         VRCYLLIQQYSEALMALTTMASLRDHSTPETLSIMDDLISS

Mouse                         VRCYLLIQQYSEALMALTTMASLRDHSTPETLSIMDDLITS

Zebrafish                     IRSYLLIQQYTEALMALTAAPSLRDHVTPQTLAMVEDLLSV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1923 GREB1-like protein
Alternative sequence 748 – 1923 Missing. In isoform 4.



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.