Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26224 | 78895;78896;78897 | chr2:178567462;178567461;178567460 | chr2:179432189;179432188;179432187 |
| N2AB | 24583 | 73972;73973;73974 | chr2:178567462;178567461;178567460 | chr2:179432189;179432188;179432187 |
| N2A | 23656 | 71191;71192;71193 | chr2:178567462;178567461;178567460 | chr2:179432189;179432188;179432187 |
| N2B | 17159 | 51700;51701;51702 | chr2:178567462;178567461;178567460 | chr2:179432189;179432188;179432187 |
| Novex-1 | 17284 | 52075;52076;52077 | chr2:178567462;178567461;178567460 | chr2:179432189;179432188;179432187 |
| Novex-2 | 17351 | 52276;52277;52278 | chr2:178567462;178567461;178567460 | chr2:179432189;179432188;179432187 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1480422530  |
-0.341 | 0.028 | N | 0.263 | 0.195 | 0.165133752707 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/A | rs1480422530 |
-0.341 | 0.028 | N | 0.263 | 0.195 | 0.165133752707 | gnomAD-4.0.0 | 6.84535E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99732E-07 | 0 | 0 |
| T/I | rs756093359 |
0.138 | 0.939 | D | 0.567 | 0.459 | 0.459100921832 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| T/I | rs756093359 |
0.138 | 0.939 | D | 0.567 | 0.459 | 0.459100921832 | gnomAD-4.0.0 | 1.59296E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43517E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0713 | likely_benign | 0.0659 | benign | -0.326 | Destabilizing | 0.028 | N | 0.263 | neutral | N | 0.4850609 | None | None | N |
| T/C | 0.372 | ambiguous | 0.3177 | benign | -0.28 | Destabilizing | 0.996 | D | 0.526 | neutral | None | None | None | None | N |
| T/D | 0.3245 | likely_benign | 0.2924 | benign | 0.089 | Stabilizing | 0.59 | D | 0.485 | neutral | None | None | None | None | N |
| T/E | 0.2259 | likely_benign | 0.2148 | benign | 0.012 | Stabilizing | 0.009 | N | 0.356 | neutral | None | None | None | None | N |
| T/F | 0.2464 | likely_benign | 0.2138 | benign | -0.824 | Destabilizing | 0.984 | D | 0.619 | neutral | None | None | None | None | N |
| T/G | 0.2245 | likely_benign | 0.1905 | benign | -0.453 | Destabilizing | 0.59 | D | 0.533 | neutral | None | None | None | None | N |
| T/H | 0.198 | likely_benign | 0.1822 | benign | -0.721 | Destabilizing | 0.987 | D | 0.593 | neutral | None | None | None | None | N |
| T/I | 0.138 | likely_benign | 0.1224 | benign | -0.111 | Destabilizing | 0.939 | D | 0.567 | neutral | D | 0.535849133 | None | None | N |
| T/K | 0.1363 | likely_benign | 0.1262 | benign | -0.384 | Destabilizing | 0.037 | N | 0.357 | neutral | None | None | None | None | N |
| T/L | 0.1016 | likely_benign | 0.0914 | benign | -0.111 | Destabilizing | 0.742 | D | 0.477 | neutral | None | None | None | None | N |
| T/M | 0.0956 | likely_benign | 0.0904 | benign | 0.01 | Stabilizing | 0.996 | D | 0.526 | neutral | None | None | None | None | N |
| T/N | 0.112 | likely_benign | 0.1002 | benign | -0.18 | Destabilizing | 0.684 | D | 0.453 | neutral | N | 0.500620714 | None | None | N |
| T/P | 0.5347 | ambiguous | 0.468 | ambiguous | -0.154 | Destabilizing | 0.939 | D | 0.57 | neutral | D | 0.528386208 | None | None | N |
| T/Q | 0.169 | likely_benign | 0.1621 | benign | -0.405 | Destabilizing | 0.835 | D | 0.57 | neutral | None | None | None | None | N |
| T/R | 0.129 | likely_benign | 0.1193 | benign | -0.089 | Destabilizing | 0.835 | D | 0.537 | neutral | None | None | None | None | N |
| T/S | 0.0979 | likely_benign | 0.0899 | benign | -0.37 | Destabilizing | 0.028 | N | 0.349 | neutral | N | 0.49367165 | None | None | N |
| T/V | 0.1023 | likely_benign | 0.0937 | benign | -0.154 | Destabilizing | 0.742 | D | 0.404 | neutral | None | None | None | None | N |
| T/W | 0.6482 | likely_pathogenic | 0.5816 | pathogenic | -0.846 | Destabilizing | 0.996 | D | 0.655 | neutral | None | None | None | None | N |
| T/Y | 0.2794 | likely_benign | 0.2463 | benign | -0.557 | Destabilizing | 0.984 | D | 0.621 | 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.