Variant position: 425 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 764 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FNPCEDIMGYKFLRIVVWFV SLLALLGNVFVLLILLTSHYK
Mouse FNPCEDIMGYRFLRIVVWFV SLLALLGNIFVLLILLTSHYK
Rat FNPCEDIMGYKFLRIVVWFV SPMALLGNVFVLFVLLTSHYK
Pig FNPCEDIMGYRFLRIVVWFV SLLALLGNVFVLVILLTSHYK
Bovine FNPCEDIMGYKFLRIVVWFV SLLALLGNVFVLVILLTSHYK
Sheep FNPCEDIMGYKFLRIVVWFV SLLALLGNVFVLVILLTSHYK
Cat FNPCEDIMGYKFLRIVVWFV SLLALLGNVFVLIILLTSHYK
Sequence annotation in neighborhood: 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.
Type Positions Description
21 – 764 Thyrotropin receptor
414 – 441 Helical; Name=1
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Detection of thyroid-stimulating hormone receptor and G(s)alpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis.
Truelzsch B.; Krohn K.; Wonerow P.; Chey S.; Holzapfel H.-P.; Ackermann F.; Fuehrer D.; Paschke R.;
J. Mol. Med. 78:684-691(2001)
Cited for: VARIANTS ASN-281; ILE-425; THR-453; PHE-486; ASN-505; ARG-512; GLN-512; THR-568; GLY-619; VAL-623; LEU-631; ALA-632; ILE-632; GLU-633; HIS-633; TYR-633; ALA-639 AND PHE-656; CHARACTERIZATION OF VARIANTS ILE-425 AND GLN-512;
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.