Variant position: 618 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 696 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 TALATAHPDLRSTFHNTYHS QMRQKHYYRSYEYDVPPTGTL
Chimpanzee TALATAHPDLRSTFHNTYHS QMRQKHYYRSYEYDVPPTGTL
Mouse TALATAHPDLRSTFHNTYHS QMRQKHYYRSYEYDVPPTGTL
Rat TALATAHPDLRSTFHNTYHS QMRQKHYYRSYEYDVPPTGTL
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
19 – 696 Interleukin-1 receptor accessory protein-like 1
379 – 696 Cytoplasmic
549 – 644 Interaction with NCS1
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Piton A.; Michaud J.L.; Peng H.; Aradhya S.; Gauthier J.; Mottron L.; Champagne N.; Lafreniere R.G.; Hamdan F.F.; Joober R.; Fombonne E.; Marineau C.; Cossette P.; Dube M.P.; Haghighi P.; Drapeau P.; Barker P.A.; Carbonetto S.; Rouleau G.A.;
Hum. Mol. Genet. 17:3965-3974(2008)
Cited for: VARIANTS ARG-379; HIS-618; SER-637 AND VAL-643;
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.