Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21184 | 63775;63776;63777 | chr2:178587759;178587758;178587757 | chr2:179452486;179452485;179452484 |
| N2AB | 19543 | 58852;58853;58854 | chr2:178587759;178587758;178587757 | chr2:179452486;179452485;179452484 |
| N2A | 18616 | 56071;56072;56073 | chr2:178587759;178587758;178587757 | chr2:179452486;179452485;179452484 |
| N2B | 12119 | 36580;36581;36582 | chr2:178587759;178587758;178587757 | chr2:179452486;179452485;179452484 |
| Novex-1 | 12244 | 36955;36956;36957 | chr2:178587759;178587758;178587757 | chr2:179452486;179452485;179452484 |
| Novex-2 | 12311 | 37156;37157;37158 | chr2:178587759;178587758;178587757 | chr2:179452486;179452485;179452484 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs747755332  |
-1.579 | 0.954 | N | 0.496 | 0.528 | 0.668205050051 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs747755332 |
-1.579 | 0.954 | N | 0.496 | 0.528 | 0.668205050051 | gnomAD-4.0.0 | 6.86302E-07 | None | None | None | None | I | None | 0 | 2.24992E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | None | None | 0.998 | D | 0.687 | 0.737 | 0.907794322601 | gnomAD-4.0.0 | 6.86302E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01756E-07 | 0 | 0 |
| V/I | rs1290013861 |
None | 0.835 | N | 0.457 | 0.217 | 0.471941563831 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs1290013861 |
None | 0.835 | N | 0.457 | 0.217 | 0.471941563831 | gnomAD-4.0.0 | 3.10797E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24897E-06 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5374 | ambiguous | 0.5344 | ambiguous | -1.642 | Destabilizing | 0.954 | D | 0.496 | neutral | N | 0.501157828 | None | None | I |
| V/C | 0.8059 | likely_pathogenic | 0.8228 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.572 | neutral | None | None | None | None | I |
| V/D | 0.9029 | likely_pathogenic | 0.8925 | pathogenic | -1.436 | Destabilizing | 0.998 | D | 0.687 | prob.neutral | D | 0.532343589 | None | None | I |
| V/E | 0.7544 | likely_pathogenic | 0.7453 | pathogenic | -1.356 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | I |
| V/F | 0.387 | ambiguous | 0.3707 | ambiguous | -1.065 | Destabilizing | 0.989 | D | 0.598 | neutral | N | 0.51618789 | None | None | I |
| V/G | 0.6201 | likely_pathogenic | 0.6051 | pathogenic | -2.048 | Highly Destabilizing | 0.998 | D | 0.633 | neutral | D | 0.542939426 | None | None | I |
| V/H | 0.8171 | likely_pathogenic | 0.8211 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| V/I | 0.0987 | likely_benign | 0.1021 | benign | -0.596 | Destabilizing | 0.835 | D | 0.457 | neutral | N | 0.466818696 | None | None | I |
| V/K | 0.7857 | likely_pathogenic | 0.7967 | pathogenic | -1.525 | Destabilizing | 0.999 | D | 0.594 | neutral | None | None | None | None | I |
| V/L | 0.2204 | likely_benign | 0.2173 | benign | -0.596 | Destabilizing | 0.011 | N | 0.217 | neutral | N | 0.44761686 | None | None | I |
| V/M | 0.2629 | likely_benign | 0.2673 | benign | -0.549 | Destabilizing | 0.991 | D | 0.535 | neutral | None | None | None | None | I |
| V/N | 0.7403 | likely_pathogenic | 0.742 | pathogenic | -1.485 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | I |
| V/P | 0.9341 | likely_pathogenic | 0.9318 | pathogenic | -0.911 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | I |
| V/Q | 0.635 | likely_pathogenic | 0.6386 | pathogenic | -1.509 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | I |
| V/R | 0.7571 | likely_pathogenic | 0.7502 | pathogenic | -1.121 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | I |
| V/S | 0.657 | likely_pathogenic | 0.6558 | pathogenic | -2.09 | Highly Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | I |
| V/T | 0.5513 | ambiguous | 0.5565 | ambiguous | -1.878 | Destabilizing | 0.985 | D | 0.473 | neutral | None | None | None | None | I |
| V/W | 0.9488 | likely_pathogenic | 0.947 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| V/Y | 0.7946 | likely_pathogenic | 0.7898 | pathogenic | -1.023 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | I |
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.