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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot A4UGR9: Variant p.Ile2769Val

Xin actin-binding repeat-containing protein 2
Gene: XIRP2
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Variant information Variant position: help 2769
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Valine (V) at position 2769 (I2769V, p.Ile2769Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 2769
Protein sequence length: help 3374
Location on the sequence: help KSFFSSVKESQRDDGKGALN I VEFLRKREELQQILSRVKQF
Residue conservation: help 
Human                         KSFFSSVKESQRDDGKGALNIVEFLRKREELQQILSRVKQF

Mouse                         QSAFSSVKDSQHDDGKCTINILEFLRKREELQQILSRVKQF

Rat                           QSSFSSVRESQQDGEKCAINILEFLRKREELQQILSRVKQF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 3374 Xin actin-binding repeat-containing protein 2
Coiled coil 2768 – 2792
Alternative sequence 772 – 3374 Missing. In isoform 4, isoform 5, isoform 6 and isoform 7.



Literature citations
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R.; Aslamkhan M.; Paramasivam N.; Thiel C.; Mustafa G.; Wiemann S.; Schlesner M.; Wade R.C.; Rappold G.A.; Berkel S.;
J. Med. Genet. 53:138-144(2016)
Cited for: VARIANT VAL-2769;
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.