Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30454 | 91585;91586;91587 | chr2:178551171;178551170;178551169 | chr2:179415898;179415897;179415896 |
| N2AB | 28813 | 86662;86663;86664 | chr2:178551171;178551170;178551169 | chr2:179415898;179415897;179415896 |
| N2A | 27886 | 83881;83882;83883 | chr2:178551171;178551170;178551169 | chr2:179415898;179415897;179415896 |
| N2B | 21389 | 64390;64391;64392 | chr2:178551171;178551170;178551169 | chr2:179415898;179415897;179415896 |
| Novex-1 | 21514 | 64765;64766;64767 | chr2:178551171;178551170;178551169 | chr2:179415898;179415897;179415896 |
| Novex-2 | 21581 | 64966;64967;64968 | chr2:178551171;178551170;178551169 | chr2:179415898;179415897;179415896 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | 0.294 | N | 0.417 | 0.253 | 0.29385284311 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/T | rs878985220  |
-2.073 | 0.822 | N | 0.763 | 0.515 | 0.625654597223 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs878985220 |
-2.073 | 0.822 | N | 0.763 | 0.515 | 0.625654597223 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs878985220 |
-2.073 | 0.822 | N | 0.763 | 0.515 | 0.625654597223 | gnomAD-4.0.0 | 1.98348E-05 | None | None | None | None | I | None | 6.68163E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.1193E-05 | 0 | 3.20266E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9311 | likely_pathogenic | 0.947 | pathogenic | -2.146 | Highly Destabilizing | 0.754 | D | 0.666 | neutral | None | None | None | None | I |
| I/C | 0.9785 | likely_pathogenic | 0.9819 | pathogenic | -1.325 | Destabilizing | 0.998 | D | 0.727 | prob.delet. | None | None | None | None | I |
| I/D | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -1.834 | Destabilizing | 0.993 | D | 0.837 | deleterious | None | None | None | None | I |
| I/E | 0.9931 | likely_pathogenic | 0.9938 | pathogenic | -1.78 | Destabilizing | 0.978 | D | 0.831 | deleterious | None | None | None | None | I |
| I/F | 0.888 | likely_pathogenic | 0.9021 | pathogenic | -1.481 | Destabilizing | 0.942 | D | 0.719 | prob.delet. | N | 0.514990943 | None | None | I |
| I/G | 0.9934 | likely_pathogenic | 0.9947 | pathogenic | -2.539 | Highly Destabilizing | 0.978 | D | 0.829 | deleterious | None | None | None | None | I |
| I/H | 0.9952 | likely_pathogenic | 0.996 | pathogenic | -1.755 | Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | I |
| I/K | 0.9878 | likely_pathogenic | 0.9893 | pathogenic | -1.531 | Destabilizing | 0.978 | D | 0.829 | deleterious | None | None | None | None | I |
| I/L | 0.3362 | likely_benign | 0.3707 | ambiguous | -1.097 | Destabilizing | 0.294 | N | 0.417 | neutral | N | 0.489452335 | None | None | I |
| I/M | 0.4442 | ambiguous | 0.4956 | ambiguous | -0.813 | Destabilizing | 0.942 | D | 0.689 | prob.neutral | D | 0.528882143 | None | None | I |
| I/N | 0.9619 | likely_pathogenic | 0.9667 | pathogenic | -1.422 | Destabilizing | 0.99 | D | 0.833 | deleterious | D | 0.541252407 | None | None | I |
| I/P | 0.9538 | likely_pathogenic | 0.9539 | pathogenic | -1.419 | Destabilizing | 0.993 | D | 0.836 | deleterious | None | None | None | None | I |
| I/Q | 0.9907 | likely_pathogenic | 0.9917 | pathogenic | -1.564 | Destabilizing | 0.993 | D | 0.824 | deleterious | None | None | None | None | I |
| I/R | 0.9824 | likely_pathogenic | 0.9847 | pathogenic | -0.928 | Destabilizing | 0.978 | D | 0.832 | deleterious | None | None | None | None | I |
| I/S | 0.9708 | likely_pathogenic | 0.9767 | pathogenic | -2.084 | Highly Destabilizing | 0.942 | D | 0.807 | deleterious | D | 0.529135633 | None | None | I |
| I/T | 0.8686 | likely_pathogenic | 0.8957 | pathogenic | -1.909 | Destabilizing | 0.822 | D | 0.763 | deleterious | N | 0.500991746 | None | None | I |
| I/V | 0.129 | likely_benign | 0.1332 | benign | -1.419 | Destabilizing | 0.006 | N | 0.239 | neutral | N | 0.458147993 | None | None | I |
| I/W | 0.996 | likely_pathogenic | 0.9966 | pathogenic | -1.625 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | I |
| I/Y | 0.9848 | likely_pathogenic | 0.9869 | pathogenic | -1.408 | Destabilizing | 0.978 | D | 0.775 | deleterious | 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.