Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25500 | 76723;76724;76725 | chr2:178569634;178569633;178569632 | chr2:179434361;179434360;179434359 |
| N2AB | 23859 | 71800;71801;71802 | chr2:178569634;178569633;178569632 | chr2:179434361;179434360;179434359 |
| N2A | 22932 | 69019;69020;69021 | chr2:178569634;178569633;178569632 | chr2:179434361;179434360;179434359 |
| N2B | 16435 | 49528;49529;49530 | chr2:178569634;178569633;178569632 | chr2:179434361;179434360;179434359 |
| Novex-1 | 16560 | 49903;49904;49905 | chr2:178569634;178569633;178569632 | chr2:179434361;179434360;179434359 |
| Novex-2 | 16627 | 50104;50105;50106 | chr2:178569634;178569633;178569632 | chr2:179434361;179434360;179434359 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1707397536  |
None | 0.001 | N | 0.19 | 0.043 | 0.236278675362 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | rs1707397536 |
None | 0.001 | N | 0.19 | 0.043 | 0.236278675362 | gnomAD-4.0.0 | 6.57505E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4708E-05 | 0 | 0 |
| I/T | rs1485761373 |
-1.408 | 0.058 | N | 0.627 | 0.115 | 0.385417323374 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.68E-05 | 0 | 0 |
| I/T | rs1485761373 |
-1.408 | 0.058 | N | 0.627 | 0.115 | 0.385417323374 | gnomAD-4.0.0 | 6.38246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58316E-05 | None | 1.88651E-05 | 0 | 2.86461E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0988 | likely_benign | 0.1041 | benign | -1.39 | Destabilizing | 0.016 | N | 0.521 | neutral | None | None | None | None | N |
| I/C | 0.3155 | likely_benign | 0.3646 | ambiguous | -0.879 | Destabilizing | 0.869 | D | 0.534 | neutral | None | None | None | None | N |
| I/D | 0.3861 | ambiguous | 0.4204 | ambiguous | -0.885 | Destabilizing | 0.366 | N | 0.668 | prob.neutral | None | None | None | None | N |
| I/E | 0.2713 | likely_benign | 0.2877 | benign | -0.875 | Destabilizing | 0.366 | N | 0.666 | prob.neutral | None | None | None | None | N |
| I/F | 0.0908 | likely_benign | 0.097 | benign | -0.836 | Destabilizing | 0.039 | N | 0.505 | neutral | None | None | None | None | N |
| I/G | 0.2944 | likely_benign | 0.3247 | benign | -1.706 | Destabilizing | 0.221 | N | 0.688 | prob.delet. | None | None | None | None | N |
| I/H | 0.196 | likely_benign | 0.2154 | benign | -0.811 | Destabilizing | 0.869 | D | 0.611 | neutral | None | None | None | None | N |
| I/K | 0.1208 | likely_benign | 0.1251 | benign | -1.032 | Destabilizing | 0.058 | N | 0.698 | prob.delet. | N | 0.427616363 | None | None | N |
| I/L | 0.0644 | likely_benign | 0.0661 | benign | -0.599 | Destabilizing | None | N | 0.074 | neutral | N | 0.411126758 | None | None | N |
| I/M | 0.0654 | likely_benign | 0.0642 | benign | -0.538 | Destabilizing | 0.001 | N | 0.19 | neutral | N | 0.48837682 | None | None | N |
| I/N | 0.1452 | likely_benign | 0.1517 | benign | -0.923 | Destabilizing | 0.366 | N | 0.685 | prob.delet. | None | None | None | None | N |
| I/P | 0.2801 | likely_benign | 0.2868 | benign | -0.831 | Destabilizing | 0.637 | D | 0.67 | prob.neutral | None | None | None | None | N |
| I/Q | 0.1589 | likely_benign | 0.1721 | benign | -1.069 | Destabilizing | 0.221 | N | 0.681 | prob.neutral | None | None | None | None | N |
| I/R | 0.0948 | likely_benign | 0.098 | benign | -0.425 | Destabilizing | 0.177 | N | 0.672 | prob.neutral | N | 0.46128622 | None | None | N |
| I/S | 0.1242 | likely_benign | 0.1315 | benign | -1.501 | Destabilizing | 0.075 | N | 0.691 | prob.delet. | None | None | None | None | N |
| I/T | 0.0703 | likely_benign | 0.0705 | benign | -1.374 | Destabilizing | 0.058 | N | 0.627 | neutral | N | 0.41887945 | None | None | N |
| I/V | 0.0555 | likely_benign | 0.057 | benign | -0.831 | Destabilizing | None | N | 0.125 | neutral | N | 0.407086375 | None | None | N |
| I/W | 0.445 | ambiguous | 0.479 | ambiguous | -0.919 | Destabilizing | 0.869 | D | 0.66 | prob.neutral | None | None | None | None | N |
| I/Y | 0.2661 | likely_benign | 0.3013 | benign | -0.697 | Destabilizing | 0.366 | N | 0.606 | 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.