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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02766: Variant p.Pro122Arg

Transthyretin
Gene: TTR
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Variant information Variant position: help 122
Type of variant: help LB/B
Residue change: help From Proline (P) to Arginine (R) at position 122 (P122R, p.Pro122Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to large size and basic (R)
BLOSUM score: help -2


Sequence information Variant position: help 122
Protein sequence length: help 147
Location on the sequence: help LGISPFHEHAEVVFTANDSG P RRYTIAALLSPYSYSTTAVV
Residue conservation: help 
Human                         LGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVV

Chimpanzee                    LGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVV

Mouse                         LGISPFHEFADVVFTANDSGHRHYTIAALLSPYSYSTTAVV

Rat                           LGISPFHEYAEVVFTANDSGHRHYTIAALLSPYSYSTTAVV

Pig                           LGISPFHEYAEVVFTANDSGRRHYTIAALLSPYSYSTTALV

Bovine                        LGISPFHEFAEVVFTANDSGPRHYTIAALLSPYSYSTTALV

Rabbit                        LGISPFHEYAEVVFTANDSGHRSYTIAALLSPFSYSTTAVV

Sheep                         LGISPFHEYAEVVFTANDSGLRHYTIAALLSPYSYSTTALV

Chicken                       LGLSPFHEYADVVFTANDSGHRHYTIAALLSPFSYSTTAVV

Xenopus laevis                LGLSPFHEYVDVVFTANDAGHRHYTIAVLLTPYSFSSTAIV

Xenopus tropicalis            LGLSPFHEYVDVVFSANDAGHRHYTIAVLLTPYSISSTAVV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 147 Transthyretin
Binding site 137 – 137
Glycosylation 118 – 118 N-linked (GlcNAc...) asparagine
Mutagenesis 107 – 107 F -> M. Loss of tetramerization; when associated with M-130.
Mutagenesis 130 – 130 L -> M. Loss of tetramerization; when associated with M-107.
Beta strand 120 – 122



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.