Variant position: 534 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 560 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 TCEKDGTYYVYGIVSWGLEC GKRPGVYTQVTKFLNWIKATI
Mouse TCEKDGTYYVYGIVSWGQEC GKKPGVYTQVTKFLNWIKTTM
Rat TCEKDGTYYVYGIVSWGQEC GKKPGVYTQVTKFLNWIKTTM
Bovine TCEKDGTSYIYGIVSWGLEC GKRPGVYTQVTKFLTWIKATM
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
314 – 560 Hyaluronan-binding protein 2 27 kDa light chain
320 – 560 Hyaluronan-binding protein 2 27 kDa light chain alternate form
314 – 555 Peptidase S1
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-90 AND GLN-393; VARIANT NMTC5 GLU-534;
Marburg I polymorphism of factor VII-activating protease: a prominent risk predictor of carotid stenosis.
Willeit J.; Kiechl S.; Weimer T.; Mair A.; Santer P.; Wiedermann C.J.; Roemisch J.;
Cited for: VARIANT GLN-393; VARIANT NMTC5 GLU-534;
Germline HABP2 mutation causing familial nonmedullary thyroid cancer.
Gara S.K.; Jia L.; Merino M.J.; Agarwal S.K.; Zhang L.; Cam M.; Patel D.; Kebebew E.;
N. Engl. J. Med. 373:448-455(2015)
Cited for: FUNCTION; INVOLVEMENT IN NMTC5; VARIANT NMTC5 GLU-534; CHARACTERIZATION OF VARIANT NMTC5 GLU-534;
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.