Sequence information
Variant position: 3258 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4544 The length of the canonical sequence.
Location on the sequence:
TLFEDYVYWTDWETKSINRA
H KTTGTNKTLLISTLHRPMDL
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 TLFEDYVYWTDWETKSINRAH KTTGTNKTLLISTLHRPMDL
Mouse TLFEDYVYWTDWETKSINRAH KTTGANKTLLISTLHRPMDL
Rat TLFEDYVYWTDWETKSINRAH KTTGANKTLLISTLHRPMDL
Chicken TLFEDYIYWTDWETKSINRAH KTTGANKTLLISTLHRPMDI
Baker's yeast --------------------- --------------------
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
Chain
20 – 4544
Prolow-density lipoprotein receptor-related protein 1
Chain
20 – 3943
Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Topological domain
20 – 4419
Extracellular
Repeat
3244 – 3284
LDL-receptor class B 30
Glycosylation
3264 – 3264
N-linked (GlcNAc...) asparagine
Alternative sequence
293 – 4544
Missing. In isoform 2.
Literature citations
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 GLN-3258;
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.