Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15740 | 47443;47444;47445 | chr2:178618240;178618239;178618238 | chr2:179482967;179482966;179482965 |
| N2AB | 14099 | 42520;42521;42522 | chr2:178618240;178618239;178618238 | chr2:179482967;179482966;179482965 |
| N2A | 13172 | 39739;39740;39741 | chr2:178618240;178618239;178618238 | chr2:179482967;179482966;179482965 |
| N2B | 6675 | 20248;20249;20250 | chr2:178618240;178618239;178618238 | chr2:179482967;179482966;179482965 |
| Novex-1 | 6800 | 20623;20624;20625 | chr2:178618240;178618239;178618238 | chr2:179482967;179482966;179482965 |
| Novex-2 | 6867 | 20824;20825;20826 | chr2:178618240;178618239;178618238 | chr2:179482967;179482966;179482965 |
| 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 | rs1409834543  |
-0.753 | 0.005 | N | 0.221 | 0.073 | 0.154104182512 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| T/A | rs1409834543 |
-0.753 | 0.005 | N | 0.221 | 0.073 | 0.154104182512 | gnomAD-4.0.0 | 4.10736E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95862E-05 | 0 |
| T/I | rs1184522966 |
-0.249 | 0.934 | N | 0.596 | 0.195 | 0.31291088546 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| T/I | rs1184522966 |
-0.249 | 0.934 | N | 0.596 | 0.195 | 0.31291088546 | gnomAD-4.0.0 | 4.77952E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.30021E-05 | 0 |
| T/S | None | None | 0.062 | N | 0.223 | 0.052 | 0.16115917748 | gnomAD-4.0.0 | 6.8456E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99857E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0827 | likely_benign | 0.095 | benign | -0.83 | Destabilizing | 0.005 | N | 0.221 | neutral | N | 0.454104854 | None | None | I |
| T/C | 0.4358 | ambiguous | 0.3832 | ambiguous | -0.543 | Destabilizing | 0.998 | D | 0.581 | neutral | None | None | None | None | I |
| T/D | 0.4427 | ambiguous | 0.4872 | ambiguous | -0.327 | Destabilizing | 0.842 | D | 0.539 | neutral | None | None | None | None | I |
| T/E | 0.3212 | likely_benign | 0.3751 | ambiguous | -0.366 | Destabilizing | 0.842 | D | 0.523 | neutral | None | None | None | None | I |
| T/F | 0.2503 | likely_benign | 0.2909 | benign | -1.056 | Destabilizing | 0.974 | D | 0.674 | neutral | None | None | None | None | I |
| T/G | 0.2988 | likely_benign | 0.3561 | ambiguous | -1.031 | Destabilizing | 0.525 | D | 0.603 | neutral | None | None | None | None | I |
| T/H | 0.3365 | likely_benign | 0.3589 | ambiguous | -1.307 | Destabilizing | 0.037 | N | 0.479 | neutral | None | None | None | None | I |
| T/I | 0.1402 | likely_benign | 0.1329 | benign | -0.396 | Destabilizing | 0.934 | D | 0.596 | neutral | N | 0.46530585 | None | None | I |
| T/K | 0.2923 | likely_benign | 0.3003 | benign | -0.727 | Destabilizing | 0.842 | D | 0.507 | neutral | None | None | None | None | I |
| T/L | 0.1025 | likely_benign | 0.105 | benign | -0.396 | Destabilizing | 0.842 | D | 0.507 | neutral | None | None | None | None | I |
| T/M | 0.0931 | likely_benign | 0.1122 | benign | -0.002 | Destabilizing | 0.991 | D | 0.593 | neutral | None | None | None | None | I |
| T/N | 0.1383 | likely_benign | 0.1629 | benign | -0.57 | Destabilizing | 0.801 | D | 0.49 | neutral | N | 0.475929214 | None | None | I |
| T/P | 0.1758 | likely_benign | 0.1468 | benign | -0.511 | Destabilizing | 0.966 | D | 0.596 | neutral | N | 0.468463013 | None | None | I |
| T/Q | 0.267 | likely_benign | 0.3072 | benign | -0.871 | Destabilizing | 0.974 | D | 0.609 | neutral | None | None | None | None | I |
| T/R | 0.2598 | likely_benign | 0.2766 | benign | -0.371 | Destabilizing | 0.949 | D | 0.594 | neutral | None | None | None | None | I |
| T/S | 0.127 | likely_benign | 0.1557 | benign | -0.846 | Destabilizing | 0.062 | N | 0.223 | neutral | N | 0.460274118 | None | None | I |
| T/V | 0.1153 | likely_benign | 0.1112 | benign | -0.511 | Destabilizing | 0.728 | D | 0.477 | neutral | None | None | None | None | I |
| T/W | 0.5826 | likely_pathogenic | 0.638 | pathogenic | -0.934 | Destabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | I |
| T/Y | 0.2977 | likely_benign | 0.3249 | benign | -0.718 | Destabilizing | 0.949 | D | 0.67 | neutral | None | None | None | None | I |
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.