Table 3.
Possible examples of type III phosphovariants
| Gene name (Swiss-Prot ID) | Variation site (Swiss-Prot variant ID) | Related phosphorylation site (kinase recognizing it) | Local peptide sequence | Effect | Reference(s) for variation | Reference(s) for phosphorylation site |
|---|---|---|---|---|---|---|
| Panel a: A possible example of type III phosphovariant | ||||||
| PTPN1 (P18031) | P387L (VAR_022014) | S386 (CDC2 and CK2) | LRGAQAA S PAKGEPS | Low glucose tolerance and polymorphism (rs16995309) | 15919835 | 9600099 8491187 |
| Panel b: Possible examples of phosphovariants which can be classified as type I or III | ||||||
| BRCA1 (P38398) | S1217Y (VAR_020695) | S1217 | ESSEENL S SEDEELP | Breast cancer and breast-ovarian cancer | 14722926 | 17081983 |
| CASP8 (Q14790) | S219T (VAR_025816) | S219 | PREQDSE S QTLDKVY | Polymorphism (rs35976359) | 17525332 | |
| CDK2 (P24941) | Y15S (VAR_016157) | Y15 | EKIGEGT Y GVVYKAR | Polymorphism (rs3087335) | 1396589 12912980 12972555 15144186 | |
| CTNNB1 (P35222) | S33Y (VAR_017619) | S33 | QQQSYLD S GIHSGAT | Pilomatrixoma | 12027456 10192393 | 12000790 12114015 11818547 |
| CTNNB1 (P35222) | S37Y (VAR_017627) | S37 | YLDSGIH S GATTTAP | Hepatocellular carcinoma | 10435629 | 12000790 12114015 11818547 |
| TEK (Q02763) | Y897S (VAR_008716) | Y897 | GACEHRG Y LYLAIEY | Dominantly inherited venous malformations | 10369874 | 11080633 |
| XRCC1 (P18887) | S485Y (VAR_014779) | S485 | QDNGAED S GDTEDEL | Polymorphism (rs2307184) | 15066279 | |
The reasons why these variations are classified as type III are detailed in the text.
Protein names which are abbreviated by their gene names: breast cancer type 1 susceptibility proteinBRCA1; caspase 8, CASP8; cyclin dependent kinase 2, CDK2; catenin β-1, CTNNB1; tyrosine-protein phosphatase nonreceptor type 1, PTPN1; angiopoietin-1 receptor (precursorP, TEK; DNA repair protein XRCC1, XRCC1.