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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02766: Variant p.Glu74Lys

Transthyretin
Gene: TTR
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Variant information Variant position: help 74 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glutamate (E) to Lysine (K) at position 74 (E74K, p.Glu74Lys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In AMYLD1; early-onset amyloid polyneuropathy. Any additional useful information about the variant.


Sequence information Variant position: help 74 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 147 The length of the canonical sequence.
Location on the sequence: help RKAADDTWEPFASGKTSESG E LHGLTTEEEFVEGIYKVEID The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEID

Chimpanzee                    KKAADETWEPFASGKTSESGELHGLTTEEEFVEGIYKVEID

Mouse                         KKTSEGSWEPFASGKTAESGELHGLTTDEKFVEGVYRVELD

Rat                           KKTADGSWEPFASGKTAESGELHGLTTDEKFTEGVYRVELD

Pig                           KKAADGTWEPFALGKTSEFGELHGLTTDEKFVEGIYKVELD

Bovine                        KKAADETWEPFASGKTSESGELHGLTTEDKFVEGLYKVELD

Rabbit                        KKAADETWEPFASGKTSKTGELHGLTTSEKFVEGVYKVELD

Sheep                         KKAADETWEPFASGKTSDSGELHGLTTEDKFVEGLYKVELD

Chicken                       KKAADGTWQDFATGKTTEFGEIHELTTEEQFVEGVYRVEFD

Xenopus laevis                RQTESGKWEQITSGKTTELGEIHNLTTDEQFTEGVYKIEFA

Xenopus tropicalis            RNT-EGNWELISSGKTTELGEIHNIITDEQFTEGVYKIEFA
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
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
Beta strand 73 – 75



Literature citations
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
Busse A.; Sanchez M.A.; Monterroso V.; Alvarado M.V.; Leon P.;
Am. J. Med. Genet. A 128:190-194(2004)
Cited for: VARIANT AMYLD1 LYS-74;
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.