Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9286 | 28081;28082;28083 | chr2:178711974;178711973;178711972 | chr2:179576701;179576700;179576699 |
| N2AB | 8969 | 27130;27131;27132 | chr2:178711974;178711973;178711972 | chr2:179576701;179576700;179576699 |
| N2A | 8042 | 24349;24350;24351 | chr2:178711974;178711973;178711972 | chr2:179576701;179576700;179576699 |
| 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 | rs769642697  |
-1.536 | 0.002 | N | 0.121 | 0.212 | 0.542318960711 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.38E-05 | None | 0 | 0 | 0 |
| V/A | rs769642697 |
-1.536 | 0.002 | N | 0.121 | 0.212 | 0.542318960711 | gnomAD-4.0.0 | 2.06466E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.53349E-05 | 0 |
| V/D | rs769642697 |
None | 0.891 | N | 0.652 | 0.4 | 0.852490477632 | gnomAD-4.0.0 | 1.37644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80742E-06 | 0 | 0 |
| V/F | rs777547707 |
-1.054 | 0.966 | D | 0.563 | 0.471 | 0.833848131578 | gnomAD-2.1.1 | 2.45E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79018E-04 | None | 0 | None | 0 | 0 | 1.6852E-04 |
| V/F | rs777547707 |
-1.054 | 0.966 | D | 0.563 | 0.471 | 0.833848131578 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 9.61908E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs777547707 |
-1.054 | 0.966 | D | 0.563 | 0.471 | 0.833848131578 | gnomAD-4.0.0 | 7.72553E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.70258E-03 | None | 0 | 0 | 8.51409E-07 | 0 | 3.22186E-05 |
| V/I | None | None | 0.625 | N | 0.461 | 0.167 | None | gnomAD-4.0.0 | 6.88289E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03757E-07 | 0 | 0 |
| V/L | rs777547707 |
None | 0.625 | N | 0.395 | 0.189 | 0.428976297845 | gnomAD-4.0.0 | 6.88289E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03757E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0993 | likely_benign | 0.0998 | benign | -1.302 | Destabilizing | 0.002 | N | 0.121 | neutral | N | 0.420811474 | None | None | N |
| V/C | 0.6983 | likely_pathogenic | 0.68 | pathogenic | -0.822 | Destabilizing | 0.974 | D | 0.533 | neutral | None | None | None | None | N |
| V/D | 0.2573 | likely_benign | 0.2654 | benign | -0.829 | Destabilizing | 0.891 | D | 0.652 | neutral | N | 0.500312407 | None | None | N |
| V/E | 0.3145 | likely_benign | 0.344 | ambiguous | -0.809 | Destabilizing | 0.842 | D | 0.626 | neutral | None | None | None | None | N |
| V/F | 0.1865 | likely_benign | 0.2239 | benign | -0.922 | Destabilizing | 0.966 | D | 0.563 | neutral | D | 0.522994611 | None | None | N |
| V/G | 0.1982 | likely_benign | 0.2142 | benign | -1.631 | Destabilizing | 0.454 | N | 0.577 | neutral | N | 0.494343745 | None | None | N |
| V/H | 0.5944 | likely_pathogenic | 0.6245 | pathogenic | -1.072 | Destabilizing | 0.998 | D | 0.621 | neutral | None | None | None | None | N |
| V/I | 0.0881 | likely_benign | 0.0957 | benign | -0.499 | Destabilizing | 0.625 | D | 0.461 | neutral | N | 0.487865972 | None | None | N |
| V/K | 0.3834 | ambiguous | 0.4228 | ambiguous | -0.97 | Destabilizing | 0.842 | D | 0.624 | neutral | None | None | None | None | N |
| V/L | 0.257 | likely_benign | 0.3088 | benign | -0.499 | Destabilizing | 0.625 | D | 0.395 | neutral | N | 0.487493663 | None | None | N |
| V/M | 0.1544 | likely_benign | 0.1772 | benign | -0.449 | Destabilizing | 0.991 | D | 0.526 | neutral | None | None | None | None | N |
| V/N | 0.2346 | likely_benign | 0.2476 | benign | -0.798 | Destabilizing | 0.974 | D | 0.658 | neutral | None | None | None | None | N |
| V/P | 0.9393 | likely_pathogenic | 0.9629 | pathogenic | -0.731 | Destabilizing | 0.915 | D | 0.633 | neutral | None | None | None | None | N |
| V/Q | 0.3811 | ambiguous | 0.4005 | ambiguous | -0.917 | Destabilizing | 0.974 | D | 0.629 | neutral | None | None | None | None | N |
| V/R | 0.3586 | ambiguous | 0.4007 | ambiguous | -0.519 | Destabilizing | 0.974 | D | 0.659 | neutral | None | None | None | None | N |
| V/S | 0.1549 | likely_benign | 0.152 | benign | -1.364 | Destabilizing | 0.525 | D | 0.547 | neutral | None | None | None | None | N |
| V/T | 0.1253 | likely_benign | 0.1256 | benign | -1.224 | Destabilizing | 0.029 | N | 0.111 | neutral | None | None | None | None | N |
| V/W | 0.8484 | likely_pathogenic | 0.8879 | pathogenic | -1.108 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| V/Y | 0.5199 | ambiguous | 0.573 | pathogenic | -0.791 | Destabilizing | 0.991 | D | 0.553 | 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.