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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y5U9: Variant p.Val21Gly

Immediate early response 3-interacting protein 1
Gene: IER3IP1
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Variant information Variant position: help 21
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Glycine (G) at position 21 (V21G, p.Val21Gly).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to glycine (G)
BLOSUM score: help -3
Variant description: help In MEDS1.
Other resources: help


Sequence information Variant position: help 21
Protein sequence length: help 82
Location on the sequence: help MAFTLYSLLQAALLCVNAIA V LHEERFLKNIGWGTDQGIGG
Residue conservation: help
Human                         MAFTLYSLLQAALLCVNAIAVLHEERFLKNIGWGTDQGIGG

Mouse                         MAFTLYSLMQAALLCVNAIAVLHEERFLKNIGWGTDQGIGG

Rat                           MAFTLYSLMQAALLCVNAIAVLHEERFLKNIGWGTDQGIGG

Bovine                        MAFTLYSLLQAALLCVNAIAVLHEERFLKNIGWGTDQGIGG

Xenopus laevis                MAFTLYTLLQAALLCVNAVAVLHEERFLSKIGWGVDHGIGG

Zebrafish                     MAFTLYALIQTAILFTNAIAVLHEERFLSKIGWGAEQGVGG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 82 Immediate early response 3-interacting protein 1
Transmembrane 2 – 22 Helical



Literature citations
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.
Poulton C.J.; Schot R.; Kia S.K.; Jones M.; Verheijen F.W.; Venselaar H.; de Wit M.C.; de Graaff E.; Bertoli-Avella A.M.; Mancini G.M.;
Am. J. Hum. Genet. 89:265-276(2011)
Cited for: VARIANTS MEDS1 GLY-21 AND PRO-78; Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Shalev S.A.; Tenenbaum-Rakover Y.; Horovitz Y.; Paz V.P.; Ye H.; Carmody D.; Highland H.M.; Boerwinkle E.; Hanis C.L.; Muzny D.M.; Gibbs R.A.; Bell G.I.; Philipson L.H.; Greeley S.A.;
Pediatr. Diabetes 15:252-256(2014)
Cited for: VARIANT MEDS1 GLY-21;
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.