Paralogue Annotation for CACNA1C residue 171

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 171
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 171

No paralogue variants have been mapped to residue 171 for CACNA1C.



CACNA1CAIYIPFPEDDSNATNSNLERVEYLFLI-IF>T<VEAFLKVIAYGLLFHPNAYLRNGWNLLDFI201
CACNA1AALEQHLPDDDKTPMSERLDDTEPYFIG-IF>C<FEAGIKIIALGFAFHKGSYLRNGWNVMDFV175
CACNA1BALEQHLPDGDKTPMSERLDDTEPYFIG-IF>C<FEAGIKIIALGFVFHKGSYLRNGWNVMDFV172
CACNA1DAIYIPFPEDDSNSTNHNLEKVEYAFLI-IF>T<VETFLKIIAYGLLLHPNAYVRNGWNLLDFV203
CACNA1EALEQHLPEDDKTPMSRRLEKTEPYFIG-IF>C<FEAGIKIVALGFIFHKGSYLRNGWNVMDFI166
CACNA1FGVYIPFPEDDSNTANHNLEQVEYVFLV-IF>T<VETVLKIVAYGLVLHPSAYIRNGWNLLDFI169
CACNA1GGMFRPCEDIACDSQRCRILQAFDDFIFAFF>A<VEMVVKMVALGI-FGKKCYLGDTWNRLDFF158
CACNA1HGMFRPCEDVECGSERCNILEAFDAFIFAFF>A<VEMVIKMVALGL-FGQKCYLGDTWNRLDFF177
CACNA1IGMYQPCDDMDCLSDRCKILQVFDDFIFIFF>A<MEMVLKMVALGI-FGKKCYLGDTWNRLDFF156
CACNA1SAVYLPMPEDDNNSLNLGLEKLEYFFLI-VF>S<IEAAMKIIAYGFLFHQDAYLRSGWNVLDFT128
SCN10ATRT------D-LPE-----KIEYVFTV-IY>T<FEALIKILARGFCLNEFTYLRDPWNWLDFS195
SCN11AATGPA-K--NSNSNNT--DIAECVFTG-IY>I<FEALIKILARGFILDEFSFLRDPWNWLDSI201
SCN1ATMS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKIIARGFCLEDFTFLRDPWNWLDFT196
SCN2ATMS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKILARGFCLEDFTFLRDPWNWLDFT197
SCN3ATLS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKILARGFCLEDFTFLRDPWNWLDFS196
SCN4ATMS------D-PPPWS--KNVEYTFTG-IY>T<FESLIKILARGFCVDDFTFLRDPWNWLDFS199
SCN5AAQH------D-PPPWT--KYVEYTFTA-IY>T<FESLVKILARGFCLHAFTFLRDPWNWLDFS199
SCN7ASLT------N-LPKWR--PVLENTLLG-IY>T<FEILVKLFARGVWAGSFSFLGDPWNWLDFS186
SCN8ATFS------N-PPDWS--KNVEYTFTG-IY>T<FESLVKIIARGFCIDGFTFLRDPWNWLDFS200
SCN9ATMN------N-PPDWT--KNVEYTFTG-IY>T<FESLVKILARGFCVGEFTFLRDPWNWLDFV194
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T171Mc.512C>T Other Cardiac PhenotypeSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series. Pediatr Cardiol. 2015 36(4):768-78. doi: 10.1007/s00246-014-1082-4. 25500949