Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3045 | 9358;9359;9360 | chr2:178768703;178768702;178768701 | chr2:179633430;179633429;179633428 |
| N2AB | 3045 | 9358;9359;9360 | chr2:178768703;178768702;178768701 | chr2:179633430;179633429;179633428 |
| N2A | 3045 | 9358;9359;9360 | chr2:178768703;178768702;178768701 | chr2:179633430;179633429;179633428 |
| N2B | 2999 | 9220;9221;9222 | chr2:178768703;178768702;178768701 | chr2:179633430;179633429;179633428 |
| Novex-1 | 2999 | 9220;9221;9222 | chr2:178768703;178768702;178768701 | chr2:179633430;179633429;179633428 |
| Novex-2 | 2999 | 9220;9221;9222 | chr2:178768703;178768702;178768701 | chr2:179633430;179633429;179633428 |
| Novex-3 | 3045 | 9358;9359;9360 | chr2:178768703;178768702;178768701 | chr2:179633430;179633429;179633428 |
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/S | None | None | 0.284 | N | 0.324 | 0.127 | 0.224531998449 | gnomAD-4.0.0 | 6.84156E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99308E-07 | 0 | 0 |
| A/T | rs755527049  |
-0.776 | 0.865 | N | 0.571 | 0.275 | 0.361558571881 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | N | None | 6.18E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| A/T | rs755527049 |
-0.776 | 0.865 | N | 0.571 | 0.275 | 0.361558571881 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs755527049 |
-0.776 | 0.865 | N | 0.571 | 0.275 | 0.361558571881 | gnomAD-4.0.0 | 4.95734E-06 | None | None | None | None | N | None | 2.66951E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23737E-06 | 0 | 1.60072E-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 | 0.7183 | likely_pathogenic | 0.8148 | pathogenic | -0.757 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| A/D | 0.6224 | likely_pathogenic | 0.6911 | pathogenic | -0.317 | Destabilizing | 0.983 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/E | 0.6687 | likely_pathogenic | 0.7766 | pathogenic | -0.39 | Destabilizing | 0.978 | D | 0.632 | neutral | N | 0.521552533 | None | None | N |
| A/F | 0.7279 | likely_pathogenic | 0.8197 | pathogenic | -0.666 | Destabilizing | 0.992 | D | 0.751 | deleterious | None | None | None | None | N |
| A/G | 0.3789 | ambiguous | 0.493 | ambiguous | -0.617 | Destabilizing | 0.865 | D | 0.463 | neutral | N | 0.510458121 | None | None | N |
| A/H | 0.7941 | likely_pathogenic | 0.8754 | pathogenic | -0.672 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/I | 0.7161 | likely_pathogenic | 0.818 | pathogenic | -0.122 | Destabilizing | 0.992 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/K | 0.8971 | likely_pathogenic | 0.9497 | pathogenic | -0.817 | Destabilizing | 0.968 | D | 0.646 | neutral | None | None | None | None | N |
| A/L | 0.6256 | likely_pathogenic | 0.7368 | pathogenic | -0.122 | Destabilizing | 0.944 | D | 0.626 | neutral | None | None | None | None | N |
| A/M | 0.599 | likely_pathogenic | 0.713 | pathogenic | -0.303 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | None | None | None | None | N |
| A/N | 0.5949 | likely_pathogenic | 0.697 | pathogenic | -0.546 | Destabilizing | 0.968 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/P | 0.9778 | likely_pathogenic | 0.9851 | pathogenic | -0.186 | Destabilizing | 0.989 | D | 0.719 | prob.delet. | D | 0.613116445 | None | None | N |
| A/Q | 0.7041 | likely_pathogenic | 0.7981 | pathogenic | -0.69 | Destabilizing | 0.983 | D | 0.749 | deleterious | None | None | None | None | N |
| A/R | 0.8565 | likely_pathogenic | 0.9182 | pathogenic | -0.494 | Destabilizing | 0.983 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/S | 0.1232 | likely_benign | 0.1722 | benign | -0.871 | Destabilizing | 0.284 | N | 0.324 | neutral | N | 0.497344833 | None | None | N |
| A/T | 0.2452 | likely_benign | 0.3829 | ambiguous | -0.839 | Destabilizing | 0.865 | D | 0.571 | neutral | N | 0.510702151 | None | None | N |
| A/V | 0.364 | ambiguous | 0.4935 | ambiguous | -0.186 | Destabilizing | 0.928 | D | 0.64 | neutral | N | 0.509057259 | None | None | N |
| A/W | 0.9563 | likely_pathogenic | 0.9771 | pathogenic | -0.934 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| A/Y | 0.7715 | likely_pathogenic | 0.8658 | pathogenic | -0.532 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | 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.