Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7159 | 21700;21701;21702 | chr2:178723625;178723624;178723623 | chr2:179588352;179588351;179588350 |
| N2AB | 6842 | 20749;20750;20751 | chr2:178723625;178723624;178723623 | chr2:179588352;179588351;179588350 |
| N2A | 5915 | 17968;17969;17970 | chr2:178723625;178723624;178723623 | chr2:179588352;179588351;179588350 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs749509937  |
-1.352 | 0.454 | N | 0.471 | 0.108 | 0.550589291799 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.63E-05 | None | 0 | 0 | 0 |
| V/A | rs749509937 |
-1.352 | 0.454 | N | 0.471 | 0.108 | 0.550589291799 | gnomAD-4.0.0 | 6.84945E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16507E-04 | 0 |
| V/I | rs371267140 |
0.006 | 0.029 | N | 0.143 | 0.109 | None | gnomAD-2.1.1 | 3.96E-05 | None | None | None | None | N | None | 1.6581E-04 | 5.71E-05 | None | 0 | 0 | None | 0 | None | 4.02E-05 | 3.15E-05 | 0 |
| V/I | rs371267140 |
0.006 | 0.029 | N | 0.143 | 0.109 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 1.93097E-04 | 1.30993E-04 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs371267140 |
0.006 | 0.029 | N | 0.143 | 0.109 | None | gnomAD-4.0.0 | 3.41186E-05 | None | None | None | None | N | None | 2.40565E-04 | 1.00375E-04 | None | 0 | 2.23324E-05 | None | 3.12764E-05 | 0 | 1.95051E-05 | 1.10312E-05 | 6.41355E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.221 | likely_benign | 0.2009 | benign | -1.28 | Destabilizing | 0.454 | N | 0.471 | neutral | N | 0.506851591 | None | None | N |
| V/C | 0.7745 | likely_pathogenic | 0.7583 | pathogenic | -0.874 | Destabilizing | 0.998 | D | 0.559 | neutral | None | None | None | None | N |
| V/D | 0.3647 | ambiguous | 0.3228 | benign | -0.701 | Destabilizing | 0.669 | D | 0.617 | neutral | D | 0.52561071 | None | None | N |
| V/E | 0.2046 | likely_benign | 0.1872 | benign | -0.68 | Destabilizing | 0.067 | N | 0.442 | neutral | None | None | None | None | N |
| V/F | 0.1453 | likely_benign | 0.1376 | benign | -0.883 | Destabilizing | 0.973 | D | 0.605 | neutral | N | 0.491795623 | None | None | N |
| V/G | 0.3157 | likely_benign | 0.2853 | benign | -1.614 | Destabilizing | 0.801 | D | 0.613 | neutral | N | 0.494251158 | None | None | N |
| V/H | 0.4877 | ambiguous | 0.4526 | ambiguous | -1.099 | Destabilizing | 0.998 | D | 0.625 | neutral | None | None | None | None | N |
| V/I | 0.0723 | likely_benign | 0.0728 | benign | -0.462 | Destabilizing | 0.029 | N | 0.143 | neutral | N | 0.460388582 | None | None | N |
| V/K | 0.3018 | likely_benign | 0.2715 | benign | -0.905 | Destabilizing | 0.842 | D | 0.593 | neutral | None | None | None | None | N |
| V/L | 0.1666 | likely_benign | 0.1587 | benign | -0.462 | Destabilizing | 0.013 | N | 0.164 | neutral | N | 0.500253692 | None | None | N |
| V/M | 0.1127 | likely_benign | 0.1099 | benign | -0.401 | Destabilizing | 0.949 | D | 0.534 | neutral | None | None | None | None | N |
| V/N | 0.2805 | likely_benign | 0.2509 | benign | -0.736 | Destabilizing | 0.949 | D | 0.639 | neutral | None | None | None | None | N |
| V/P | 0.896 | likely_pathogenic | 0.87 | pathogenic | -0.699 | Destabilizing | 0.974 | D | 0.613 | neutral | None | None | None | None | N |
| V/Q | 0.2843 | likely_benign | 0.2546 | benign | -0.852 | Destabilizing | 0.949 | D | 0.613 | neutral | None | None | None | None | N |
| V/R | 0.2639 | likely_benign | 0.2314 | benign | -0.5 | Destabilizing | 0.949 | D | 0.635 | neutral | None | None | None | None | N |
| V/S | 0.2498 | likely_benign | 0.2255 | benign | -1.363 | Destabilizing | 0.728 | D | 0.597 | neutral | None | None | None | None | N |
| V/T | 0.2088 | likely_benign | 0.1846 | benign | -1.225 | Destabilizing | 0.029 | N | 0.152 | neutral | None | None | None | None | N |
| V/W | 0.7629 | likely_pathogenic | 0.7357 | pathogenic | -1.074 | Destabilizing | 0.998 | D | 0.649 | neutral | None | None | None | None | N |
| V/Y | 0.4695 | ambiguous | 0.4337 | ambiguous | -0.751 | Destabilizing | 0.991 | D | 0.589 | 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.