Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22806 | 68641;68642;68643 | chr2:178578099;178578098;178578097 | chr2:179442826;179442825;179442824 |
| N2AB | 21165 | 63718;63719;63720 | chr2:178578099;178578098;178578097 | chr2:179442826;179442825;179442824 |
| N2A | 20238 | 60937;60938;60939 | chr2:178578099;178578098;178578097 | chr2:179442826;179442825;179442824 |
| N2B | 13741 | 41446;41447;41448 | chr2:178578099;178578098;178578097 | chr2:179442826;179442825;179442824 |
| Novex-1 | 13866 | 41821;41822;41823 | chr2:178578099;178578098;178578097 | chr2:179442826;179442825;179442824 |
| Novex-2 | 13933 | 42022;42023;42024 | chr2:178578099;178578098;178578097 | chr2:179442826;179442825;179442824 |
| 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 | None | None | 0.011 | N | 0.175 | 0.196 | 0.185906805712 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79934E-06 | 0 | 0 |
| T/I | rs727503573  |
-0.148 | 0.968 | D | 0.64 | 0.336 | 0.385906861911 | gnomAD-2.1.1 | 4.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.26904E-04 | None | 0 | 0 | 0 |
| T/I | rs727503573 |
-0.148 | 0.968 | D | 0.64 | 0.336 | 0.385906861911 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| T/I | rs727503573 |
-0.148 | 0.968 | D | 0.64 | 0.336 | 0.385906861911 | gnomAD-4.0.0 | 3.47157E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.0174E-05 | 4.83198E-04 | 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 | 0.0799 | likely_benign | 0.0827 | benign | -0.581 | Destabilizing | 0.011 | N | 0.175 | neutral | N | 0.478449584 | None | None | N |
| T/C | 0.3182 | likely_benign | 0.3302 | benign | -0.366 | Destabilizing | 0.997 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/D | 0.4213 | ambiguous | 0.5013 | ambiguous | 0.429 | Stabilizing | 0.988 | D | 0.606 | neutral | None | None | None | None | N |
| T/E | 0.3574 | ambiguous | 0.4298 | ambiguous | 0.382 | Stabilizing | 0.976 | D | 0.583 | neutral | None | None | None | None | N |
| T/F | 0.2309 | likely_benign | 0.2658 | benign | -0.971 | Destabilizing | 0.988 | D | 0.736 | prob.delet. | None | None | None | None | N |
| T/G | 0.1695 | likely_benign | 0.1666 | benign | -0.748 | Destabilizing | 0.851 | D | 0.589 | neutral | None | None | None | None | N |
| T/H | 0.2515 | likely_benign | 0.2999 | benign | -0.977 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/I | 0.1693 | likely_benign | 0.1879 | benign | -0.25 | Destabilizing | 0.968 | D | 0.64 | neutral | D | 0.52477563 | None | None | N |
| T/K | 0.243 | likely_benign | 0.3291 | benign | -0.355 | Destabilizing | 0.968 | D | 0.6 | neutral | N | 0.505629722 | None | None | N |
| T/L | 0.0919 | likely_benign | 0.1003 | benign | -0.25 | Destabilizing | 0.919 | D | 0.54 | neutral | None | None | None | None | N |
| T/M | 0.0835 | likely_benign | 0.084 | benign | -0.072 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| T/N | 0.1116 | likely_benign | 0.1198 | benign | -0.209 | Destabilizing | 0.988 | D | 0.546 | neutral | None | None | None | None | N |
| T/P | 0.0951 | likely_benign | 0.1097 | benign | -0.33 | Destabilizing | 0.026 | N | 0.321 | neutral | N | 0.521137892 | None | None | N |
| T/Q | 0.2252 | likely_benign | 0.2587 | benign | -0.383 | Destabilizing | 0.988 | D | 0.684 | prob.neutral | None | None | None | None | N |
| T/R | 0.2193 | likely_benign | 0.3111 | benign | -0.123 | Destabilizing | 0.984 | D | 0.67 | neutral | N | 0.514595922 | None | None | N |
| T/S | 0.0898 | likely_benign | 0.0941 | benign | -0.517 | Destabilizing | 0.811 | D | 0.463 | neutral | N | 0.450621801 | None | None | N |
| T/V | 0.1272 | likely_benign | 0.14 | benign | -0.33 | Destabilizing | 0.851 | D | 0.454 | neutral | None | None | None | None | N |
| T/W | 0.5272 | ambiguous | 0.6101 | pathogenic | -0.926 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2665 | likely_benign | 0.3328 | benign | -0.657 | Destabilizing | 0.996 | D | 0.733 | prob.delet. | 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.