Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18176 | 54751;54752;54753 | chr2:178604161;178604160;178604159 | chr2:179468888;179468887;179468886 |
| N2AB | 16535 | 49828;49829;49830 | chr2:178604161;178604160;178604159 | chr2:179468888;179468887;179468886 |
| N2A | 15608 | 47047;47048;47049 | chr2:178604161;178604160;178604159 | chr2:179468888;179468887;179468886 |
| N2B | 9111 | 27556;27557;27558 | chr2:178604161;178604160;178604159 | chr2:179468888;179468887;179468886 |
| Novex-1 | 9236 | 27931;27932;27933 | chr2:178604161;178604160;178604159 | chr2:179468888;179468887;179468886 |
| Novex-2 | 9303 | 28132;28133;28134 | chr2:178604161;178604160;178604159 | chr2:179468888;179468887;179468886 |
| 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 | rs553262724  |
-0.921 | 0.934 | N | 0.659 | 0.101 | 0.536804958393 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs553262724 |
-0.921 | 0.934 | N | 0.659 | 0.101 | 0.536804958393 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs553262724 |
-0.921 | 0.934 | N | 0.659 | 0.101 | 0.536804958393 | gnomAD-4.0.0 | 4.34202E-06 | None | None | None | None | N | None | 9.34829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/M | rs1211482141 |
-0.566 | 0.934 | N | 0.607 | 0.134 | 0.371344866733 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/M | rs1211482141 |
-0.566 | 0.934 | N | 0.607 | 0.134 | 0.371344866733 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/M | rs1211482141 |
-0.566 | 0.934 | N | 0.607 | 0.134 | 0.371344866733 | gnomAD-4.0.0 | 2.48116E-06 | None | None | None | None | N | None | 5.34759E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | None | None | 0.022 | N | 0.304 | 0.187 | 0.47185959272 | gnomAD-4.0.0 | 1.3697E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80019E-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 | 0.1295 | likely_benign | 0.1074 | benign | -0.711 | Destabilizing | 0.029 | N | 0.227 | neutral | None | None | None | None | N |
| L/C | 0.4891 | ambiguous | 0.4487 | ambiguous | -0.794 | Destabilizing | 0.991 | D | 0.615 | neutral | None | None | None | None | N |
| L/D | 0.5503 | ambiguous | 0.4747 | ambiguous | -0.029 | Destabilizing | 0.842 | D | 0.639 | neutral | None | None | None | None | N |
| L/E | 0.2219 | likely_benign | 0.2034 | benign | -0.077 | Destabilizing | 0.842 | D | 0.613 | neutral | None | None | None | None | N |
| L/F | 0.1883 | likely_benign | 0.1257 | benign | -0.463 | Destabilizing | 0.934 | D | 0.659 | neutral | N | 0.490121551 | None | None | N |
| L/G | 0.4008 | ambiguous | 0.329 | benign | -0.92 | Destabilizing | 0.728 | D | 0.545 | neutral | None | None | None | None | N |
| L/H | 0.2548 | likely_benign | 0.1866 | benign | -0.057 | Destabilizing | 0.998 | D | 0.596 | neutral | None | None | None | None | N |
| L/I | 0.0699 | likely_benign | 0.0669 | benign | -0.262 | Destabilizing | 0.016 | N | 0.249 | neutral | None | None | None | None | N |
| L/K | 0.2101 | likely_benign | 0.213 | benign | -0.475 | Destabilizing | 0.842 | D | 0.624 | neutral | None | None | None | None | N |
| L/M | 0.0999 | likely_benign | 0.0933 | benign | -0.474 | Destabilizing | 0.934 | D | 0.607 | neutral | N | 0.473074586 | None | None | N |
| L/N | 0.2547 | likely_benign | 0.2196 | benign | -0.381 | Destabilizing | 0.949 | D | 0.645 | neutral | None | None | None | None | N |
| L/P | 0.7136 | likely_pathogenic | 0.5875 | pathogenic | -0.379 | Destabilizing | 0.974 | D | 0.654 | neutral | None | None | None | None | N |
| L/Q | 0.1328 | likely_benign | 0.1143 | benign | -0.525 | Destabilizing | 0.974 | D | 0.647 | neutral | None | None | None | None | N |
| L/R | 0.2136 | likely_benign | 0.1719 | benign | 0.039 | Stabilizing | 0.949 | D | 0.667 | neutral | None | None | None | None | N |
| L/S | 0.181 | likely_benign | 0.1357 | benign | -0.908 | Destabilizing | 0.022 | N | 0.304 | neutral | N | 0.419794675 | None | None | N |
| L/T | 0.0957 | likely_benign | 0.0854 | benign | -0.841 | Destabilizing | 0.029 | N | 0.225 | neutral | None | None | None | None | N |
| L/V | 0.064 | likely_benign | 0.0645 | benign | -0.379 | Destabilizing | 0.454 | N | 0.448 | neutral | N | 0.421298971 | None | None | N |
| L/W | 0.4361 | ambiguous | 0.2968 | benign | -0.49 | Destabilizing | 0.997 | D | 0.617 | neutral | N | 0.476902193 | None | None | N |
| L/Y | 0.3991 | ambiguous | 0.2992 | benign | -0.259 | Destabilizing | 0.991 | D | 0.657 | 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.