Variant position: 510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 572 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 SGSQRHMVGQKDSVILSVKF SPFGQWWASVGMDDFLGVYSM
Mouse KRDQVLTVDTKDNTILGLKF SPNGKWWASVGMGNFITVHSM
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
1 – 572 Transducin-like enhancer protein 6
499 – 538 WD 6
510 – 510 Phosphoserine; by PKA
TLE6 mutation causes the earliest known human embryonic lethality.
Alazami A.M.; Awad S.M.; Coskun S.; Al-Hassan S.; Hijazi H.; Abdulwahab F.M.; Poizat C.; Alkuraya F.S.;
Genome Biol. 16:R240.1-R240.8(2015)
Cited for: VARIANT PREMBL1 TYR-510; PHOSPHORYLATION AT SER-510; CHARACTERIZATION OF VARIANT PREMBL1 TYR-510; INTERACTION WITH KHDC3L AND OOEP; FUNCTION;
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.