UniProtKB/Swiss-Prot Q9NZN1: Variant p.Gln618His

Interleukin-1 receptor accessory protein-like 1
Gene: IL1RAPL1
Chromosomal location: Xp21.3
Variant information

Variant position:  618
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glutamine (Q) to Histidine (H) at position 618 (Q618H, p.Gln618His).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page



Sequence information

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:   TALATAHPDLRSTFHNTYHS  Q MRQKHYYRSYEYDVPPTGTL
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                         TALATAHPDLRSTFHNTYHSQMRQKHYYRSYEYDVPPTGTL

Chimpanzee                    TALATAHPDLRSTFHNTYHSQMRQKHYYRSYEYDVPPTGTL

Mouse                         TALATAHPDLRSTFHNTYHSQMRQKHYYRSYEYDVPPTGTL

Rat                           TALATAHPDLRSTFHNTYHSQMRQKHYYRSYEYDVPPTGTL

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.

TypePositionsDescription
Chain 19 – 696 Interleukin-1 receptor accessory protein-like 1
Topological domain 379 – 696 Cytoplasmic
Region 549 – 644 Interaction with NCS1


Literature citations

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;

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.