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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02766: Variant p.Thr69Ala

Transthyretin
Gene: TTR
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Variant information Variant position: help 69
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Alanine (A) at position 69 (T69A, p.Thr69Ala).
Physico-chemical properties: help Change from medium size and polar (T) to small size and hydrophobic (A)
BLOSUM score: help 0
Variant description: help In AMYLD1; amyloid polyneuropathy.
Other resources: help


Sequence information Variant position: help 69
Protein sequence length: help 147
Location on the sequence: help AVHVFRKAADDTWEPFASGK T SESGELHGLTTEEEFVEGIY
Residue conservation: help 
Human                         AVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIY

Chimpanzee                    AVHVFKKAADETWEPFASGKTSESGELHGLTTEEEFVEGIY

Mouse                         AVKVFKKTSEGSWEPFASGKTAESGELHGLTTDEKFVEGVY

Rat                           AVKVFKKTADGSWEPFASGKTAESGELHGLTTDEKFTEGVY

Pig                           GVKVFKKAADGTWEPFALGKTSEFGELHGLTTDEKFVEGIY

Bovine                        GVKVFKKAADETWEPFASGKTSESGELHGLTTEDKFVEGLY

Rabbit                        SVHVFKKAADETWEPFASGKTSKTGELHGLTTSEKFVEGVY

Sheep                         GVKVFKKAADETWEPFASGKTSDSGELHGLTTEDKFVEGLY

Chicken                       AVKVFKKAADGTWQDFATGKTTEFGEIHELTTEEQFVEGVY

Xenopus laevis                LVNVFRQTESGKWEQITSGKTTELGEIHNLTTDEQFTEGVY

Xenopus tropicalis            LVQVFRNT-EGNWELISSGKTTELGEIHNIITDEQFTEGVY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 147 Transthyretin
Binding site 74 – 74
Modified residue 62 – 62 4-carboxyglutamate; in a patient with Moyamoya disease
Modified residue 72 – 72 Phosphoserine



Literature citations
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.
Almeida M.R.; Ferlini A.; Forabosco A.; Gawinowicz M.A.; Costa P.P.; Salvi F.; Plasmati R.; Tassinari C.A.; Altland K.; Saraiva M.J.;
Hum. Mutat. 1:211-215(1992)
Cited for: VARIANTS AMYLD1 ALA-69 AND GLN-109; Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.
Reilly M.M.; Adams D.; Booth D.R.; Davis M.B.; Said G.; Laubriat-Bianchin M.; Pepys M.B.; Thomas P.K.; Harding A.E.;
Brain 118:849-856(1995)
Cited for: VARIANTS AMYLD1 MET-50; ASN-55; ALA-69; ARG-70; ALA-80; TYR-97 AND GLN-109; Genetic microheterogeneity of human transthyretin detected by IEF.
Altland K.; Benson M.D.; Costello C.E.; Ferlini A.; Hazenberg B.P.C.; Hund E.; Kristen A.V.; Linke R.P.; Merlini G.; Salvi F.; Saraiva M.J.; Singer R.; Skinner M.; Winter P.;
Electrophoresis 28:2053-2064(2007)
Cited for: VARIANTS AMYLD1 PRO-32; ILE-40; SER-44; ALA-50; MET-50; LEU-53; VAL-53; PRO-56; THR-65; ALA-67; ALA-69; ILE-69; ALA-80; LEU-84; LEU-88; ALA-91; TYR-97; PHE-98; SER-104; ASN-104; THR-104; ALA-114; GLY-117; ASN-126; MET-127; VAL-127; MET-131 AND ILE-142; VARIANTS ILE-33; SER-121 AND THR-129; VARIANT CHICAGO MET-139;
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.