Variant position: 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 671 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 LKKEYSNENAVVKRMQSLQL DCVAVPSSRSNSATEQPGSLH
Mouse LKKEYPDQSPVLQRMFSLQH DCVPLPPSRSNS--EQPGSLH
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 – 671 Receptor-interacting serine/threonine-protein kinase 1
290 – 582 Interaction with SQSTM1
324 – 325 Cleavage; by CASP8
320 – 320 Phosphoserine; by MAP3K7
331 – 331 Phosphoserine; by MAP3K7
333 – 333 Phosphoserine; by MAP3K7
324 – 324 D -> K. Abolishes cleavage by caspase-8.
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Tao P.; Sun J.; Wu Z.; Wang S.; Wang J.; Li W.; Pan H.; Bai R.; Zhang J.; Wang Y.; Lee P.Y.; Ying W.; Zhou Q.; Hou J.; Wang W.; Sun B.; Yang M.; Liu D.; Fang R.; Han H.; Yang Z.; Huang X.; Li H.; Deuitch N.; Zhang Y.; Dissanayake D.; Haude K.; McWalter K.; Roadhouse C.; MacKenzie J.J.; Laxer R.M.; Aksentijevich I.; Yu X.; Wang X.; Yuan J.; Zhou Q.;
Cited for: INVOLVEMENT IN AIEFL; VARIANTS AIEFL HIS-324 AND VAL-324; CHARACTERIZATION OF VARIANTS AIEFL HIS-324 AND VAL-324; FUNCTION; CATALYTIC ACTIVITY; AUTOPHOSPHORYLATION; PHOSPHORYLATION AT SER-166; CLEAVAGE BY CASP8;
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.