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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10828: Variant p.Thr426Ile

Thyroid hormone receptor beta
Gene: THRB
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Variant information Variant position: help 426
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Isoleucine (I) at position 426 (T426I, p.Thr426Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Variant description: help In GRTHD.


Sequence information Variant position: help 426
Protein sequence length: help 461
Location on the sequence: help YINYRKHHVTHFWPKLLMKV T DLRMIGACHASRFLHMKVEC
Residue conservation: help 
Human                         YINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVEC

Mouse                         YINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVEC

Rat                           YINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVEC

Chicken                       YINYRKHHVAHFWPKLLMKVTDLRMIGACHASRFLHMKVEC

Zebrafish                     YINYRKHKVAHFWPKLLMKVTDLRMIGACHASRFLHMKVEC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 461 Thyroid hormone receptor beta
Domain 217 – 461 NR LBD
Region 244 – 461 Interaction with NR2F6
Binding site 435 – 435
Binding site 435 – 435
Helix 417 – 445



Literature citations
T426I a new mutation in the thyroid hormone receptor gene in a sporadic patient with resistance to thyroid hormone and dysmorphism.
Menzaghi C.; di Paola R.; Corrias A.; Einaudi S.; Trischitta V.; de Sanctis C.; de Filippis V.;
Hum. Mutat. 12:289-289(1998)
Cited for: VARIANT GRTHD ILE-426;
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.