Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20773 | 62542;62543;62544 | chr2:178589408;178589407;178589406 | chr2:179454135;179454134;179454133 |
| N2AB | 19132 | 57619;57620;57621 | chr2:178589408;178589407;178589406 | chr2:179454135;179454134;179454133 |
| N2A | 18205 | 54838;54839;54840 | chr2:178589408;178589407;178589406 | chr2:179454135;179454134;179454133 |
| N2B | 11708 | 35347;35348;35349 | chr2:178589408;178589407;178589406 | chr2:179454135;179454134;179454133 |
| Novex-1 | 11833 | 35722;35723;35724 | chr2:178589408;178589407;178589406 | chr2:179454135;179454134;179454133 |
| Novex-2 | 11900 | 35923;35924;35925 | chr2:178589408;178589407;178589406 | chr2:179454135;179454134;179454133 |
| 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/M | None | -0.152 | 0.76 | N | 0.385 | 0.045 | None | gnomAD-2.1.1 | 9.66E-05 | None | None | None | None | N | None | 9.92228E-04 | 5.67E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.84E-06 | 0 |
| L/M | None | -0.152 | 0.76 | N | 0.385 | 0.045 | None | gnomAD-3.1.2 | 2.6313E-04 | None | None | None | None | N | None | 9.6595E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/M | None | -0.152 | 0.76 | N | 0.385 | 0.045 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/M | None | -0.152 | 0.76 | N | 0.385 | 0.045 | None | gnomAD-4.0.0 | 4.5866E-05 | None | None | None | None | N | None | 9.33508E-04 | 1.66767E-05 | None | 0 | 0 | None | 0 | 0 | 8.47716E-07 | 0 | 3.20184E-05 |
| L/P | rs2049745835  |
None | 0.997 | N | 0.671 | 0.492 | 0.720495031645 | gnomAD-4.0.0 | 7.95981E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.39121E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs375173874 |
None | 0.046 | N | 0.307 | 0.052 | 0.233785782151 | gnomAD-4.0.0 | 3.4217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49772E-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 | 0.8335 | likely_pathogenic | 0.8563 | pathogenic | -1.714 | Destabilizing | 0.91 | D | 0.576 | neutral | None | None | None | None | N |
| L/C | 0.8434 | likely_pathogenic | 0.8633 | pathogenic | -1.072 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| L/D | 0.9882 | likely_pathogenic | 0.9906 | pathogenic | -0.879 | Destabilizing | 0.998 | D | 0.668 | neutral | None | None | None | None | N |
| L/E | 0.9475 | likely_pathogenic | 0.9514 | pathogenic | -0.803 | Destabilizing | 0.993 | D | 0.659 | neutral | None | None | None | None | N |
| L/F | 0.387 | ambiguous | 0.4189 | ambiguous | -0.996 | Destabilizing | 0.986 | D | 0.658 | neutral | None | None | None | None | N |
| L/G | 0.9472 | likely_pathogenic | 0.9528 | pathogenic | -2.113 | Highly Destabilizing | 0.993 | D | 0.668 | neutral | None | None | None | None | N |
| L/H | 0.9237 | likely_pathogenic | 0.9349 | pathogenic | -1.268 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| L/I | 0.1354 | likely_benign | 0.1479 | benign | -0.658 | Destabilizing | 0.91 | D | 0.501 | neutral | None | None | None | None | N |
| L/K | 0.9241 | likely_pathogenic | 0.9216 | pathogenic | -1.106 | Destabilizing | 0.993 | D | 0.666 | neutral | None | None | None | None | N |
| L/M | 0.1735 | likely_benign | 0.1711 | benign | -0.612 | Destabilizing | 0.76 | D | 0.385 | neutral | N | 0.46038493 | None | None | N |
| L/N | 0.947 | likely_pathogenic | 0.9555 | pathogenic | -1.024 | Destabilizing | 0.998 | D | 0.674 | neutral | None | None | None | None | N |
| L/P | 0.8756 | likely_pathogenic | 0.889 | pathogenic | -0.98 | Destabilizing | 0.997 | D | 0.671 | neutral | N | 0.451765446 | None | None | N |
| L/Q | 0.8555 | likely_pathogenic | 0.8594 | pathogenic | -1.064 | Destabilizing | 0.991 | D | 0.648 | neutral | N | 0.458824705 | None | None | N |
| L/R | 0.9052 | likely_pathogenic | 0.9042 | pathogenic | -0.683 | Destabilizing | 0.991 | D | 0.645 | neutral | N | 0.425501565 | None | None | N |
| L/S | 0.9393 | likely_pathogenic | 0.9489 | pathogenic | -1.742 | Destabilizing | 0.993 | D | 0.665 | neutral | None | None | None | None | N |
| L/T | 0.7692 | likely_pathogenic | 0.7714 | pathogenic | -1.526 | Destabilizing | 0.986 | D | 0.646 | neutral | None | None | None | None | N |
| L/V | 0.1561 | likely_benign | 0.1612 | benign | -0.98 | Destabilizing | 0.046 | N | 0.307 | neutral | N | 0.379806561 | None | None | N |
| L/W | 0.7777 | likely_pathogenic | 0.7878 | pathogenic | -1.1 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| L/Y | 0.8573 | likely_pathogenic | 0.884 | pathogenic | -0.86 | Destabilizing | 0.998 | D | 0.661 | 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.