Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24942 | 75049;75050;75051 | chr2:178571308;178571307;178571306 | chr2:179436035;179436034;179436033 |
| N2AB | 23301 | 70126;70127;70128 | chr2:178571308;178571307;178571306 | chr2:179436035;179436034;179436033 |
| N2A | 22374 | 67345;67346;67347 | chr2:178571308;178571307;178571306 | chr2:179436035;179436034;179436033 |
| N2B | 15877 | 47854;47855;47856 | chr2:178571308;178571307;178571306 | chr2:179436035;179436034;179436033 |
| Novex-1 | 16002 | 48229;48230;48231 | chr2:178571308;178571307;178571306 | chr2:179436035;179436034;179436033 |
| Novex-2 | 16069 | 48430;48431;48432 | chr2:178571308;178571307;178571306 | chr2:179436035;179436034;179436033 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1393490525  |
-2.444 | 1.0 | N | 0.845 | 0.568 | 0.577304025972 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/D | rs1393490525 |
-2.444 | 1.0 | N | 0.845 | 0.568 | 0.577304025972 | gnomAD-4.0.0 | 4.79022E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29709E-06 | 0 | 0 |
| G/S | rs746950810 |
-1.427 | 1.0 | N | 0.677 | 0.479 | 0.489036454283 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs746950810 |
-1.427 | 1.0 | N | 0.677 | 0.479 | 0.489036454283 | gnomAD-4.0.0 | 1.59189E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76917E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.887 | 0.591 | 0.79156486764 | gnomAD-4.0.0 | 6.84317E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99585E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4442 | ambiguous | 0.4113 | ambiguous | -0.842 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.487581071 | None | None | N |
| G/C | 0.7042 | likely_pathogenic | 0.642 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.515688959 | None | None | N |
| G/D | 0.9754 | likely_pathogenic | 0.9593 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.506267984 | None | None | N |
| G/E | 0.9848 | likely_pathogenic | 0.9761 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/F | 0.9805 | likely_pathogenic | 0.9743 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/H | 0.9683 | likely_pathogenic | 0.9498 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/I | 0.9842 | likely_pathogenic | 0.9768 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/K | 0.992 | likely_pathogenic | 0.9863 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/L | 0.9742 | likely_pathogenic | 0.9649 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.9824 | likely_pathogenic | 0.9746 | pathogenic | -0.031 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/N | 0.9385 | likely_pathogenic | 0.8974 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/Q | 0.9666 | likely_pathogenic | 0.9479 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/R | 0.9601 | likely_pathogenic | 0.9405 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.481629589 | None | None | N |
| G/S | 0.3817 | ambiguous | 0.3189 | benign | -1.663 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.486135812 | None | None | N |
| G/T | 0.8863 | likely_pathogenic | 0.8486 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/V | 0.962 | likely_pathogenic | 0.9478 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.548655012 | None | None | N |
| G/W | 0.9634 | likely_pathogenic | 0.9498 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.9576 | likely_pathogenic | 0.9412 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.849 | 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.