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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NDV7: Variant p.Ala592Thr

Trinucleotide repeat-containing gene 6A protein
Gene: TNRC6A
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Variant information Variant position: help 592
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 592 (A592T, p.Ala592Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 592
Protein sequence length: help 1962
Location on the sequence: help GVWESGAANSQSTSWGSGNG A NSGGSRRGWGTPAQNTGTNL
Residue conservation: help 
Human                         GVWESGAANSQSTSWGSGNGANSGGSRRGWGTPAQNTGTNL

Mouse                         GVWEPGTVNSQSSPWGSGNGANSGGSRRGWGSPAQNTGTGL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1962 Trinucleotide repeat-containing gene 6A protein
Region 1 – 932 Interaction with argonaute family proteins
Region 502 – 751 Sufficient for interaction with AGO2
Region 560 – 699 Disordered
Region 566 – 1343 Sufficient for interaction with AGO1 and AGO4
Alternative sequence 1 – 1801 Missing. In isoform 4.
Alternative sequence 1 – 1232 Missing. In isoform 3.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.