Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 26240 | 78943;78944;78945 | chr2:178567414;178567413;178567412 | chr2:179432141;179432140;179432139 |
N2AB | 24599 | 74020;74021;74022 | chr2:178567414;178567413;178567412 | chr2:179432141;179432140;179432139 |
N2A | 23672 | 71239;71240;71241 | chr2:178567414;178567413;178567412 | chr2:179432141;179432140;179432139 |
N2B | 17175 | 51748;51749;51750 | chr2:178567414;178567413;178567412 | chr2:179432141;179432140;179432139 |
Novex-1 | 17300 | 52123;52124;52125 | chr2:178567414;178567413;178567412 | chr2:179432141;179432140;179432139 |
Novex-2 | 17367 | 52324;52325;52326 | chr2:178567414;178567413;178567412 | chr2:179432141;179432140;179432139 |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C/Y | rs1575695077 | None | None | N | 0.273 | 0.093 | 0.220303561663 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
C/Y | rs1575695077 | None | None | N | 0.273 | 0.093 | 0.220303561663 | gnomAD-4.0.0 | 3.11452E-06 | None | None | None | None | N | None | 0 | 3.41227E-05 | None | 0 | 0 | None | 0 | 0 | 2.54993E-06 | 0 | 0 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C/A | 0.4696 | ambiguous | 0.3598 | ambiguous | -1.468 | Destabilizing | None | N | 0.101 | neutral | None | None | None | None | N |
C/D | 0.9016 | likely_pathogenic | 0.8009 | pathogenic | -0.993 | Destabilizing | 0.018 | N | 0.551 | neutral | None | None | None | None | N |
C/E | 0.8833 | likely_pathogenic | 0.789 | pathogenic | -0.859 | Destabilizing | 0.018 | N | 0.477 | neutral | None | None | None | None | N |
C/F | 0.1999 | likely_benign | 0.1238 | benign | -0.911 | Destabilizing | None | N | 0.288 | neutral | N | 0.418539173 | None | None | N |
C/G | 0.3534 | ambiguous | 0.2746 | benign | -1.784 | Destabilizing | 0.003 | N | 0.433 | neutral | N | 0.486169674 | None | None | N |
C/H | 0.5484 | ambiguous | 0.3772 | ambiguous | -2.095 | Highly Destabilizing | 0.138 | N | 0.6 | neutral | None | None | None | None | N |
C/I | 0.3877 | ambiguous | 0.2792 | benign | -0.654 | Destabilizing | 0.009 | N | 0.384 | neutral | None | None | None | None | N |
C/K | 0.8243 | likely_pathogenic | 0.6995 | pathogenic | -1.092 | Destabilizing | 0.018 | N | 0.479 | neutral | None | None | None | None | N |
C/L | 0.353 | ambiguous | 0.2802 | benign | -0.654 | Destabilizing | None | N | 0.215 | neutral | None | None | None | None | N |
C/M | 0.4572 | ambiguous | 0.3785 | ambiguous | 0.096 | Stabilizing | 0.138 | N | 0.562 | neutral | None | None | None | None | N |
C/N | 0.6538 | likely_pathogenic | 0.4727 | ambiguous | -1.21 | Destabilizing | 0.044 | N | 0.57 | neutral | None | None | None | None | N |
C/P | 0.9935 | likely_pathogenic | 0.9851 | pathogenic | -0.899 | Destabilizing | 0.085 | N | 0.611 | neutral | None | None | None | None | N |
C/Q | 0.6697 | likely_pathogenic | 0.5224 | ambiguous | -1.055 | Destabilizing | 0.044 | N | 0.619 | neutral | None | None | None | None | N |
C/R | 0.5364 | ambiguous | 0.3941 | ambiguous | -1.164 | Destabilizing | 0.033 | N | 0.595 | neutral | N | 0.449171511 | None | None | N |
C/S | 0.3827 | ambiguous | 0.2752 | benign | -1.606 | Destabilizing | None | N | 0.216 | neutral | N | 0.463274172 | None | None | N |
C/T | 0.403 | ambiguous | 0.2971 | benign | -1.3 | Destabilizing | 0.004 | N | 0.381 | neutral | None | None | None | None | N |
C/V | 0.3278 | likely_benign | 0.2393 | benign | -0.899 | Destabilizing | 0.004 | N | 0.356 | neutral | None | None | None | None | N |
C/W | 0.4409 | ambiguous | 0.3128 | benign | -1.111 | Destabilizing | 0.196 | N | 0.549 | neutral | N | 0.491711567 | None | None | N |
C/Y | 0.2401 | likely_benign | 0.1304 | benign | -0.973 | Destabilizing | None | N | 0.273 | neutral | N | 0.391179213 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.