Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28640 | 86143;86144;86145 | chr2:178560214;178560213;178560212 | chr2:179424941;179424940;179424939 |
| N2AB | 26999 | 81220;81221;81222 | chr2:178560214;178560213;178560212 | chr2:179424941;179424940;179424939 |
| N2A | 26072 | 78439;78440;78441 | chr2:178560214;178560213;178560212 | chr2:179424941;179424940;179424939 |
| N2B | 19575 | 58948;58949;58950 | chr2:178560214;178560213;178560212 | chr2:179424941;179424940;179424939 |
| Novex-1 | 19700 | 59323;59324;59325 | chr2:178560214;178560213;178560212 | chr2:179424941;179424940;179424939 |
| Novex-2 | 19767 | 59524;59525;59526 | chr2:178560214;178560213;178560212 | chr2:179424941;179424940;179424939 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs952971526  |
None | 0.002 | N | 0.251 | 0.267 | 0.318252033908 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/C | rs952971526 |
None | 0.002 | N | 0.251 | 0.267 | 0.318252033908 | gnomAD-4.0.0 | 4.05999E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.81974E-06 | 0 | 0 |
| S/P | rs1703134059 |
None | 0.8 | N | 0.471 | 0.207 | 0.277730125212 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| S/P | rs1703134059 |
None | 0.8 | N | 0.471 | 0.207 | 0.277730125212 | gnomAD-4.0.0 | 2.03003E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20493E-06 | 4.69836E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2027 | likely_benign | 0.1707 | benign | -0.572 | Destabilizing | 0.048 | N | 0.353 | neutral | N | 0.495025539 | None | None | I |
| S/C | 0.1982 | likely_benign | 0.1633 | benign | -0.355 | Destabilizing | 0.002 | N | 0.251 | neutral | N | 0.481342284 | None | None | I |
| S/D | 0.9523 | likely_pathogenic | 0.9258 | pathogenic | -0.066 | Destabilizing | 0.428 | N | 0.423 | neutral | None | None | None | None | I |
| S/E | 0.9775 | likely_pathogenic | 0.9627 | pathogenic | 0.013 | Stabilizing | 0.428 | N | 0.428 | neutral | None | None | None | None | I |
| S/F | 0.7878 | likely_pathogenic | 0.6838 | pathogenic | -0.511 | Destabilizing | 0.8 | D | 0.631 | neutral | N | 0.519005598 | None | None | I |
| S/G | 0.2512 | likely_benign | 0.1993 | benign | -0.902 | Destabilizing | 0.428 | N | 0.335 | neutral | None | None | None | None | I |
| S/H | 0.9072 | likely_pathogenic | 0.8675 | pathogenic | -1.285 | Destabilizing | 0.984 | D | 0.399 | neutral | None | None | None | None | I |
| S/I | 0.588 | likely_pathogenic | 0.4622 | ambiguous | 0.217 | Stabilizing | 0.568 | D | 0.526 | neutral | None | None | None | None | I |
| S/K | 0.9915 | likely_pathogenic | 0.984 | pathogenic | -0.34 | Destabilizing | 0.428 | N | 0.417 | neutral | None | None | None | None | I |
| S/L | 0.334 | likely_benign | 0.2378 | benign | 0.217 | Stabilizing | 0.272 | N | 0.442 | neutral | None | None | None | None | I |
| S/M | 0.5105 | ambiguous | 0.3866 | ambiguous | 0.187 | Stabilizing | 0.842 | D | 0.403 | neutral | None | None | None | None | I |
| S/N | 0.7193 | likely_pathogenic | 0.6255 | pathogenic | -0.52 | Destabilizing | 0.428 | N | 0.467 | neutral | None | None | None | None | I |
| S/P | 0.9253 | likely_pathogenic | 0.8603 | pathogenic | -0.01 | Destabilizing | 0.8 | D | 0.471 | neutral | N | 0.519766066 | None | None | I |
| S/Q | 0.9608 | likely_pathogenic | 0.9409 | pathogenic | -0.47 | Destabilizing | 0.842 | D | 0.403 | neutral | None | None | None | None | I |
| S/R | 0.988 | likely_pathogenic | 0.9799 | pathogenic | -0.494 | Destabilizing | 0.724 | D | 0.477 | neutral | None | None | None | None | I |
| S/T | 0.1062 | likely_benign | 0.0797 | benign | -0.448 | Destabilizing | 0.001 | N | 0.063 | neutral | N | 0.500949047 | None | None | I |
| S/V | 0.4732 | ambiguous | 0.3751 | ambiguous | -0.01 | Destabilizing | 0.272 | N | 0.477 | neutral | None | None | None | None | I |
| S/W | 0.9149 | likely_pathogenic | 0.8655 | pathogenic | -0.579 | Destabilizing | 0.984 | D | 0.593 | neutral | None | None | None | None | I |
| S/Y | 0.8202 | likely_pathogenic | 0.7223 | pathogenic | -0.23 | Destabilizing | 0.8 | D | 0.569 | neutral | D | 0.530779977 | 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.