Variant position: 173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 928 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 KKYDVLFALFSKLERTCELI YLTQPSSSISTEINSALVLKV
Mouse KKYNVLCALYSKLERTCELI YLTQPSSALSTEINSMLVLKI
Rat KKYNVLCALYSKLERTCGLI YLTQPSSGLSTEINSMLVLKV
Chicken KKYDVLLALYHKFERTCGLI YLEQPSSEISAELSSVLVLKN
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
2 – 928 Retinoblastoma-associated protein
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT HIS-173;
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