Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14765 | 44518;44519;44520 | chr2:178629432;178629431;178629430 | chr2:179494159;179494158;179494157 |
| N2AB | 13124 | 39595;39596;39597 | chr2:178629432;178629431;178629430 | chr2:179494159;179494158;179494157 |
| N2A | 12197 | 36814;36815;36816 | chr2:178629432;178629431;178629430 | chr2:179494159;179494158;179494157 |
| N2B | 5700 | 17323;17324;17325 | chr2:178629432;178629431;178629430 | chr2:179494159;179494158;179494157 |
| Novex-1 | 5825 | 17698;17699;17700 | chr2:178629432;178629431;178629430 | chr2:179494159;179494158;179494157 |
| Novex-2 | 5892 | 17899;17900;17901 | chr2:178629432;178629431;178629430 | chr2:179494159;179494158;179494157 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs772788193  |
-0.264 | 0.999 | N | 0.581 | 0.434 | 0.453588565359 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 8.72E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs772788193 |
-0.264 | 0.999 | N | 0.581 | 0.434 | 0.453588565359 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs772788193 |
-0.264 | 0.999 | N | 0.581 | 0.434 | 0.453588565359 | gnomAD-4.0.0 | 5.13011E-06 | None | None | None | None | I | None | 1.69291E-05 | 1.69601E-05 | None | 0 | 0 | None | 0 | 0 | 4.79187E-06 | 0 | 0 |
| G/S | None | None | 0.905 | N | 0.52 | 0.204 | 0.343560092441 | gnomAD-4.0.0 | 1.5935E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0292E-05 |
| G/V | rs772788193 |
-0.175 | 0.999 | N | 0.702 | 0.467 | 0.63538471256 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/V | rs772788193 |
-0.175 | 0.999 | N | 0.702 | 0.467 | 0.63538471256 | gnomAD-4.0.0 | 1.59337E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86225E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1763 | likely_benign | 0.2844 | benign | -0.31 | Destabilizing | 0.992 | D | 0.507 | neutral | N | 0.489005012 | None | None | I |
| G/C | 0.3291 | likely_benign | 0.5199 | ambiguous | -0.668 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.494732592 | None | None | I |
| G/D | 0.516 | ambiguous | 0.7467 | pathogenic | 0.037 | Stabilizing | 0.999 | D | 0.581 | neutral | N | 0.491316599 | None | None | I |
| G/E | 0.4441 | ambiguous | 0.6751 | pathogenic | -0.013 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | I |
| G/F | 0.7499 | likely_pathogenic | 0.8407 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| G/H | 0.5424 | ambiguous | 0.7412 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/I | 0.457 | ambiguous | 0.6419 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/K | 0.6445 | likely_pathogenic | 0.8313 | pathogenic | -0.43 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | I |
| G/L | 0.587 | likely_pathogenic | 0.7502 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| G/M | 0.6434 | likely_pathogenic | 0.7923 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/N | 0.4957 | ambiguous | 0.6839 | pathogenic | -0.297 | Destabilizing | 0.999 | D | 0.582 | neutral | None | None | None | None | I |
| G/P | 0.9483 | likely_pathogenic | 0.9688 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| G/Q | 0.5025 | ambiguous | 0.6832 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | I |
| G/R | 0.4444 | ambiguous | 0.6899 | pathogenic | -0.21 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.489630023 | None | None | I |
| G/S | 0.1198 | likely_benign | 0.1958 | benign | -0.605 | Destabilizing | 0.905 | D | 0.52 | neutral | N | 0.487559623 | None | None | I |
| G/T | 0.2078 | likely_benign | 0.3446 | ambiguous | -0.549 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | I |
| G/V | 0.313 | likely_benign | 0.484 | ambiguous | -0.15 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | N | 0.491316599 | None | None | I |
| G/W | 0.656 | likely_pathogenic | 0.8316 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| G/Y | 0.6295 | likely_pathogenic | 0.7972 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | 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.