Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28834 | 86725;86726;86727 | chr2:178559632;178559631;178559630 | chr2:179424359;179424358;179424357 |
| N2AB | 27193 | 81802;81803;81804 | chr2:178559632;178559631;178559630 | chr2:179424359;179424358;179424357 |
| N2A | 26266 | 79021;79022;79023 | chr2:178559632;178559631;178559630 | chr2:179424359;179424358;179424357 |
| N2B | 19769 | 59530;59531;59532 | chr2:178559632;178559631;178559630 | chr2:179424359;179424358;179424357 |
| Novex-1 | 19894 | 59905;59906;59907 | chr2:178559632;178559631;178559630 | chr2:179424359;179424358;179424357 |
| Novex-2 | 19961 | 60106;60107;60108 | chr2:178559632;178559631;178559630 | chr2:179424359;179424358;179424357 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs750913615  |
0.074 | 0.698 | N | 0.465 | 0.274 | 0.519783508757 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11383E-04 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs750913615 |
0.074 | 0.698 | N | 0.465 | 0.274 | 0.519783508757 | gnomAD-4.0.0 | 2.05272E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.0388E-05 | None | 0 | 0 | 0 | 0 | 1.65667E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4004 | ambiguous | 0.4356 | ambiguous | -0.82 | Destabilizing | 0.998 | D | 0.492 | neutral | None | None | None | None | I |
| A/D | 0.3781 | ambiguous | 0.3708 | ambiguous | -0.332 | Destabilizing | 0.942 | D | 0.597 | neutral | N | 0.478302339 | None | None | I |
| A/E | 0.3279 | likely_benign | 0.3266 | benign | -0.483 | Destabilizing | 0.754 | D | 0.535 | neutral | None | None | None | None | I |
| A/F | 0.3399 | likely_benign | 0.3648 | ambiguous | -0.828 | Destabilizing | 0.978 | D | 0.646 | neutral | None | None | None | None | I |
| A/G | 0.1699 | likely_benign | 0.1741 | benign | -0.221 | Destabilizing | 0.822 | D | 0.497 | neutral | N | 0.493698635 | None | None | I |
| A/H | 0.4404 | ambiguous | 0.4651 | ambiguous | -0.267 | Destabilizing | 0.994 | D | 0.634 | neutral | None | None | None | None | I |
| A/I | 0.1898 | likely_benign | 0.2004 | benign | -0.314 | Destabilizing | 0.956 | D | 0.536 | neutral | None | None | None | None | I |
| A/K | 0.4055 | ambiguous | 0.4106 | ambiguous | -0.512 | Destabilizing | 0.043 | N | 0.311 | neutral | None | None | None | None | I |
| A/L | 0.1979 | likely_benign | 0.2107 | benign | -0.314 | Destabilizing | 0.754 | D | 0.522 | neutral | None | None | None | None | I |
| A/M | 0.2117 | likely_benign | 0.221 | benign | -0.428 | Destabilizing | 0.998 | D | 0.529 | neutral | None | None | None | None | I |
| A/N | 0.2451 | likely_benign | 0.2653 | benign | -0.27 | Destabilizing | 0.956 | D | 0.603 | neutral | None | None | None | None | I |
| A/P | 0.7761 | likely_pathogenic | 0.7722 | pathogenic | -0.243 | Destabilizing | 0.97 | D | 0.537 | neutral | N | 0.50530843 | None | None | I |
| A/Q | 0.3268 | likely_benign | 0.3357 | benign | -0.521 | Destabilizing | 0.956 | D | 0.534 | neutral | None | None | None | None | I |
| A/R | 0.4162 | ambiguous | 0.4256 | ambiguous | -0.105 | Destabilizing | 0.915 | D | 0.523 | neutral | None | None | None | None | I |
| A/S | 0.0899 | likely_benign | 0.091 | benign | -0.466 | Destabilizing | 0.153 | N | 0.302 | neutral | N | 0.488138773 | None | None | I |
| A/T | 0.0726 | likely_benign | 0.0733 | benign | -0.535 | Destabilizing | 0.058 | N | 0.216 | neutral | N | 0.506278375 | None | None | I |
| A/V | 0.1012 | likely_benign | 0.1041 | benign | -0.243 | Destabilizing | 0.698 | D | 0.465 | neutral | N | 0.510027969 | None | None | I |
| A/W | 0.8159 | likely_pathogenic | 0.836 | pathogenic | -0.96 | Destabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | None | I |
| A/Y | 0.4714 | ambiguous | 0.5035 | ambiguous | -0.615 | Destabilizing | 0.993 | D | 0.636 | 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.