Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28507 | 85744;85745;85746 | chr2:178560613;178560612;178560611 | chr2:179425340;179425339;179425338 |
| N2AB | 26866 | 80821;80822;80823 | chr2:178560613;178560612;178560611 | chr2:179425340;179425339;179425338 |
| N2A | 25939 | 78040;78041;78042 | chr2:178560613;178560612;178560611 | chr2:179425340;179425339;179425338 |
| N2B | 19442 | 58549;58550;58551 | chr2:178560613;178560612;178560611 | chr2:179425340;179425339;179425338 |
| Novex-1 | 19567 | 58924;58925;58926 | chr2:178560613;178560612;178560611 | chr2:179425340;179425339;179425338 |
| Novex-2 | 19634 | 59125;59126;59127 | chr2:178560613;178560612;178560611 | chr2:179425340;179425339;179425338 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.001 | N | 0.165 | 0.031 | 0.0954503805726 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99488E-07 | 0 | 0 |
| M/V | rs750081245  |
0.035 | None | N | 0.062 | 0.091 | 0.239305524855 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.36E-05 | 0 |
| M/V | rs750081245 |
0.035 | None | N | 0.062 | 0.091 | 0.239305524855 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/V | rs750081245 |
0.035 | None | N | 0.062 | 0.091 | 0.239305524855 | gnomAD-4.0.0 | 5.12587E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.57178E-05 | 0 | 7.17899E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1126 | likely_benign | 0.0971 | benign | -0.779 | Destabilizing | None | N | 0.141 | neutral | None | None | None | None | N |
| M/C | 0.4297 | ambiguous | 0.4311 | ambiguous | -0.813 | Destabilizing | 0.041 | N | 0.458 | neutral | None | None | None | None | N |
| M/D | 0.3715 | ambiguous | 0.3284 | benign | 0.281 | Stabilizing | 0.004 | N | 0.332 | neutral | None | None | None | None | N |
| M/E | 0.2122 | likely_benign | 0.1776 | benign | 0.298 | Stabilizing | 0.004 | N | 0.299 | neutral | None | None | None | None | N |
| M/F | 0.2305 | likely_benign | 0.2292 | benign | -0.049 | Destabilizing | 0.009 | N | 0.225 | neutral | None | None | None | None | N |
| M/G | 0.1912 | likely_benign | 0.1846 | benign | -1.03 | Destabilizing | 0.001 | N | 0.345 | neutral | None | None | None | None | N |
| M/H | 0.2521 | likely_benign | 0.2264 | benign | -0.002 | Destabilizing | 0.316 | N | 0.461 | neutral | None | None | None | None | N |
| M/I | 0.1685 | likely_benign | 0.1545 | benign | -0.176 | Destabilizing | 0.001 | N | 0.165 | neutral | N | 0.44798414 | None | None | N |
| M/K | 0.0857 | likely_benign | 0.0737 | benign | 0.126 | Stabilizing | 0.003 | N | 0.247 | neutral | N | 0.393264221 | None | None | N |
| M/L | 0.1099 | likely_benign | 0.0988 | benign | -0.176 | Destabilizing | None | N | 0.061 | neutral | N | 0.436246994 | None | None | N |
| M/N | 0.1201 | likely_benign | 0.1105 | benign | 0.085 | Stabilizing | 0.009 | N | 0.303 | neutral | None | None | None | None | N |
| M/P | 0.5721 | likely_pathogenic | 0.4894 | ambiguous | -0.349 | Destabilizing | 0.018 | N | 0.305 | neutral | None | None | None | None | N |
| M/Q | 0.1245 | likely_benign | 0.1168 | benign | 0.049 | Stabilizing | 0.018 | N | 0.235 | neutral | None | None | None | None | N |
| M/R | 0.0975 | likely_benign | 0.0811 | benign | 0.561 | Stabilizing | 0.007 | N | 0.298 | neutral | N | 0.3831833 | None | None | N |
| M/S | 0.1071 | likely_benign | 0.1072 | benign | -0.459 | Destabilizing | 0.001 | N | 0.268 | neutral | None | None | None | None | N |
| M/T | 0.0678 | likely_benign | 0.0603 | benign | -0.325 | Destabilizing | None | N | 0.139 | neutral | N | 0.345064843 | None | None | N |
| M/V | 0.0771 | likely_benign | 0.0767 | benign | -0.349 | Destabilizing | None | N | 0.062 | neutral | N | 0.357498209 | None | None | N |
| M/W | 0.4752 | ambiguous | 0.4564 | ambiguous | -0.05 | Destabilizing | 0.316 | N | 0.352 | neutral | None | None | None | None | N |
| M/Y | 0.3204 | likely_benign | 0.3241 | benign | 0.049 | Stabilizing | 0.018 | N | 0.388 | 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.