Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7008 | 21247;21248;21249 | chr2:178724353;178724352;178724351 | chr2:179589080;179589079;179589078 |
| N2AB | 6691 | 20296;20297;20298 | chr2:178724353;178724352;178724351 | chr2:179589080;179589079;179589078 |
| N2A | 5764 | 17515;17516;17517 | chr2:178724353;178724352;178724351 | chr2:179589080;179589079;179589078 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs770243060  |
None | 0.81 | N | 0.389 | 0.133 | 0.560341545759 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 1.09649E-03 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs770243060 |
None | 0.81 | N | 0.389 | 0.133 | 0.560341545759 | gnomAD-4.0.0 | 6.57212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | rs770243060 |
-1.242 | 0.002 | N | 0.066 | 0.125 | 0.435699915968 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67094E-04 | None | 0 | None | 0 | 0 | 0 |
| L/I | rs770243060 |
-1.242 | 0.002 | N | 0.066 | 0.125 | 0.435699915968 | gnomAD-4.0.0 | 4.10588E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.5601E-05 | None | 0 | 0 | 2.69875E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.18 | likely_benign | 0.1447 | benign | -1.586 | Destabilizing | 0.4 | N | 0.389 | neutral | None | None | None | None | N |
| L/C | 0.4611 | ambiguous | 0.4009 | ambiguous | -1.023 | Destabilizing | 0.992 | D | 0.417 | neutral | None | None | None | None | N |
| L/D | 0.4621 | ambiguous | 0.3718 | ambiguous | -0.855 | Destabilizing | 0.739 | D | 0.523 | neutral | None | None | None | None | N |
| L/E | 0.2674 | likely_benign | 0.2243 | benign | -0.862 | Destabilizing | 0.85 | D | 0.517 | neutral | None | None | None | None | N |
| L/F | 0.1059 | likely_benign | 0.086 | benign | -1.128 | Destabilizing | 0.81 | D | 0.389 | neutral | N | 0.467277269 | None | None | N |
| L/G | 0.3535 | ambiguous | 0.2968 | benign | -1.904 | Destabilizing | 0.617 | D | 0.513 | neutral | None | None | None | None | N |
| L/H | 0.1623 | likely_benign | 0.1424 | benign | -1.059 | Destabilizing | 0.97 | D | 0.522 | neutral | N | 0.45588684 | None | None | N |
| L/I | 0.0778 | likely_benign | 0.0666 | benign | -0.791 | Destabilizing | 0.002 | N | 0.066 | neutral | N | 0.470778934 | None | None | N |
| L/K | 0.2394 | likely_benign | 0.2068 | benign | -1.016 | Destabilizing | 0.85 | D | 0.474 | neutral | None | None | None | None | N |
| L/M | 0.1158 | likely_benign | 0.0965 | benign | -0.591 | Destabilizing | 0.059 | N | 0.228 | neutral | None | None | None | None | N |
| L/N | 0.2025 | likely_benign | 0.1703 | benign | -0.81 | Destabilizing | 0.048 | N | 0.402 | neutral | None | None | None | None | N |
| L/P | 0.1743 | likely_benign | 0.1576 | benign | -1.024 | Destabilizing | 0.963 | D | 0.557 | neutral | N | 0.43955195 | None | None | N |
| L/Q | 0.1248 | likely_benign | 0.1105 | benign | -1.001 | Destabilizing | 0.92 | D | 0.526 | neutral | None | None | None | None | N |
| L/R | 0.1615 | likely_benign | 0.1429 | benign | -0.414 | Destabilizing | 0.896 | D | 0.512 | neutral | N | 0.422350269 | None | None | N |
| L/S | 0.1561 | likely_benign | 0.1248 | benign | -1.477 | Destabilizing | 0.617 | D | 0.46 | neutral | None | None | None | None | N |
| L/T | 0.1511 | likely_benign | 0.1219 | benign | -1.363 | Destabilizing | 0.617 | D | 0.354 | neutral | None | None | None | None | N |
| L/V | 0.09 | likely_benign | 0.0741 | benign | -1.024 | Destabilizing | 0.016 | N | 0.106 | neutral | N | 0.467103911 | None | None | N |
| L/W | 0.2276 | likely_benign | 0.1883 | benign | -1.159 | Destabilizing | 0.992 | D | 0.539 | neutral | None | None | None | None | N |
| L/Y | 0.2822 | likely_benign | 0.2288 | benign | -0.943 | Destabilizing | 0.92 | D | 0.445 | neutral | 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.