| S.NO | Uniprot ID | Protein Name | Sequence Length | CBS Region | Mutation | Involvement of Repeats in Mutations |
| 1 | Q9UGJ0 | 5'-AMP-activated protein kinase subunit gamma-2 | 569 | 387 387 V->S: Induces phosphorylation by AMPK | Y | |
| 2 | P54619 | 5'-AMP-activated protein kinase subunit gamma-1 | 331 | 90 90 D->A: Reduced AMP-activation of phosphorylation of PRKAA1 or PRKAA2 245 245 D->A: Reduced AMP-activation of phosphorylation of PRKAA1 or PRKAA2 317 317 D->A: Reduced AMP-activation of phosphorylation of PRKAA1 or PRKAA2 | Y | |
| 3 | P51800 | Chloride channel protein ClC-Ka | 687 | 259 259 E->N: Calcium insensitive 261 261 E->Q: Calcium insensitive 278 278 D->N: Calcium insensitive 281 281 E->D: Calcium insensitive | N | |
| 4 | P51795 | H(+)/Cl(-) exchange transporter 5 | 746 | 211 211 E->A: Abolishes proton transport, but not chloride transport 617 617 Y->A: Strongly decreased affinity for ATP, but no effect on chloride transport 618 618 S->A: No effect ATP binding or chloride transport 672 672 Y->A: Abolishes interaction with NEDD4 and NEDD4L 727 727 D->A: Strongly decreased affinity for ATP, but no effect on chloride transport | Y | |
| 5 | P51793 | H | 760 | 224 224 E->A: Restores chloride translocation, but not proton transport when associated with A-281 281 281 E->A: Abolishes translocation of protons and chloride ions | N | |
| 6 | P51797 | Chloride transport protein 6 | 869 | 410 410 N->A: Abolishes N-glycosylation when associated with A-422 and A-432 422 422 N->A: Abolishes N-glycosylation when associated with A-410 and A-432 432 432 N->A: Abolishes N-glycosylation when associated with A-410 and A-422 | N | |
| 7 | P35523 | Chloride channel protein 1 | 988 | 290 290 I->C,E,F,G,K,L,Q,T,V,Y: Changed chloride channel activity changed gating of the channel 291 291 E->D: No effect on calcium channel activity 291 291 E->L: Loss of calcium channel activity 496 496 R->K: Changed gating of the channel 499 499 G->K,E: Changed gating of the channel 499 499 G->Q: No effect on gating of the channel 500 500 E->Q: No effect on channel function | N | |
| 8 | P51790 | H(+)/Cl(-) exchange transporter 3 | 818 | 280 280 G->E: Changes channel selectivity from I(-)>Cl(-) to Cl(-)>I(-) | N |