Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33040 | 99343;99344;99345 | chr2:178538711;178538710;178538709 | chr2:179403438;179403437;179403436 |
| N2AB | 31399 | 94420;94421;94422 | chr2:178538711;178538710;178538709 | chr2:179403438;179403437;179403436 |
| N2A | 30472 | 91639;91640;91641 | chr2:178538711;178538710;178538709 | chr2:179403438;179403437;179403436 |
| N2B | 23975 | 72148;72149;72150 | chr2:178538711;178538710;178538709 | chr2:179403438;179403437;179403436 |
| Novex-1 | 24100 | 72523;72524;72525 | chr2:178538711;178538710;178538709 | chr2:179403438;179403437;179403436 |
| Novex-2 | 24167 | 72724;72725;72726 | chr2:178538711;178538710;178538709 | chr2:179403438;179403437;179403436 |
| 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/A | None | None | 0.061 | N | 0.156 | 0.072 | 0.126345400529 | gnomAD-4.0.0 | 6.84212E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99486E-07 | 0 | 0 |
| S/P | rs772469694  |
-0.18 | 0.988 | N | 0.391 | 0.325 | 0.305410167561 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/P | rs772469694 |
-0.18 | 0.988 | N | 0.391 | 0.325 | 0.305410167561 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/P | rs772469694 |
-0.18 | 0.988 | N | 0.391 | 0.325 | 0.305410167561 | gnomAD-4.0.0 | 3.71841E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23824E-06 | 0 | 1.60113E-05 |
| S/T | rs772469694 |
-0.349 | 0.134 | N | 0.157 | 0.082 | 0.139678290688 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/T | rs772469694 |
-0.349 | 0.134 | N | 0.157 | 0.082 | 0.139678290688 | gnomAD-4.0.0 | 6.84212E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99486E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0593 | likely_benign | 0.0599 | benign | -0.682 | Destabilizing | 0.061 | N | 0.156 | neutral | N | 0.399846264 | None | None | N |
| S/C | 0.1071 | likely_benign | 0.1111 | benign | -0.523 | Destabilizing | 0.999 | D | 0.418 | neutral | N | 0.49831696 | None | None | N |
| S/D | 0.5381 | ambiguous | 0.5774 | pathogenic | -0.289 | Destabilizing | 0.969 | D | 0.351 | neutral | None | None | None | None | N |
| S/E | 0.5817 | likely_pathogenic | 0.6155 | pathogenic | -0.347 | Destabilizing | 0.969 | D | 0.312 | neutral | None | None | None | None | N |
| S/F | 0.2014 | likely_benign | 0.2405 | benign | -1.029 | Destabilizing | 0.996 | D | 0.573 | neutral | N | 0.499530469 | None | None | N |
| S/G | 0.0853 | likely_benign | 0.0975 | benign | -0.862 | Destabilizing | 0.759 | D | 0.311 | neutral | None | None | None | None | N |
| S/H | 0.4173 | ambiguous | 0.4379 | ambiguous | -1.307 | Destabilizing | 0.999 | D | 0.417 | neutral | None | None | None | None | N |
| S/I | 0.1229 | likely_benign | 0.1218 | benign | -0.324 | Destabilizing | 0.982 | D | 0.541 | neutral | None | None | None | None | N |
| S/K | 0.693 | likely_pathogenic | 0.6996 | pathogenic | -0.776 | Destabilizing | 0.939 | D | 0.311 | neutral | None | None | None | None | N |
| S/L | 0.0843 | likely_benign | 0.0884 | benign | -0.324 | Destabilizing | 0.939 | D | 0.473 | neutral | None | None | None | None | N |
| S/M | 0.1543 | likely_benign | 0.1609 | benign | 0.035 | Stabilizing | 0.997 | D | 0.421 | neutral | None | None | None | None | N |
| S/N | 0.1307 | likely_benign | 0.1389 | benign | -0.588 | Destabilizing | 0.969 | D | 0.417 | neutral | None | None | None | None | N |
| S/P | 0.2105 | likely_benign | 0.2453 | benign | -0.413 | Destabilizing | 0.988 | D | 0.391 | neutral | N | 0.458971925 | None | None | N |
| S/Q | 0.5059 | ambiguous | 0.523 | ambiguous | -0.872 | Destabilizing | 0.997 | D | 0.39 | neutral | None | None | None | None | N |
| S/R | 0.6491 | likely_pathogenic | 0.6663 | pathogenic | -0.493 | Destabilizing | 0.991 | D | 0.397 | neutral | None | None | None | None | N |
| S/T | 0.0742 | likely_benign | 0.0716 | benign | -0.678 | Destabilizing | 0.134 | N | 0.157 | neutral | N | 0.444117116 | None | None | N |
| S/V | 0.1304 | likely_benign | 0.1333 | benign | -0.413 | Destabilizing | 0.939 | D | 0.493 | neutral | None | None | None | None | N |
| S/W | 0.4056 | ambiguous | 0.4773 | ambiguous | -0.955 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| S/Y | 0.2037 | likely_benign | 0.2364 | benign | -0.724 | Destabilizing | 0.996 | D | 0.575 | neutral | N | 0.480944708 | 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.