Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17418 | 52477;52478;52479 | chr2:178608759;178608758;178608757 | chr2:179473486;179473485;179473484 |
| N2AB | 15777 | 47554;47555;47556 | chr2:178608759;178608758;178608757 | chr2:179473486;179473485;179473484 |
| N2A | 14850 | 44773;44774;44775 | chr2:178608759;178608758;178608757 | chr2:179473486;179473485;179473484 |
| N2B | 8353 | 25282;25283;25284 | chr2:178608759;178608758;178608757 | chr2:179473486;179473485;179473484 |
| Novex-1 | 8478 | 25657;25658;25659 | chr2:178608759;178608758;178608757 | chr2:179473486;179473485;179473484 |
| Novex-2 | 8545 | 25858;25859;25860 | chr2:178608759;178608758;178608757 | chr2:179473486;179473485;179473484 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs536554790  |
-1.693 | 0.056 | D | 0.401 | 0.491 | 0.488196290542 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9516E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs536554790 |
-1.693 | 0.056 | D | 0.401 | 0.491 | 0.488196290542 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| W/C | rs536554790 |
-1.693 | 0.056 | D | 0.401 | 0.491 | 0.488196290542 | gnomAD-4.0.0 | 1.86033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.72857E-05 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | rs553106785 |
-3.589 | 0.983 | D | 0.627 | 0.562 | 0.704523490634 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| W/G | rs553106785 |
-3.589 | 0.983 | D | 0.627 | 0.562 | 0.704523490634 | gnomAD-4.0.0 | 1.59377E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88537E-05 | 0 | 0 | 0 | 0 |
| W/R | rs553106785 |
-1.349 | 0.994 | D | 0.746 | 0.597 | 0.761467299739 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs553106785 |
-1.349 | 0.994 | D | 0.746 | 0.597 | 0.761467299739 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| W/R | rs553106785 |
-1.349 | 0.994 | D | 0.746 | 0.597 | 0.761467299739 | gnomAD-4.0.0 | 6.57549E-06 | None | None | None | None | N | None | 2.40685E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9942 | likely_pathogenic | 0.9925 | pathogenic | -2.818 | Highly Destabilizing | 0.845 | D | 0.613 | neutral | None | None | None | None | N |
| W/C | 0.9975 | likely_pathogenic | 0.9968 | pathogenic | -1.233 | Destabilizing | 0.056 | N | 0.401 | neutral | D | 0.545497779 | None | None | N |
| W/D | 0.9952 | likely_pathogenic | 0.9951 | pathogenic | -1.428 | Destabilizing | 0.996 | D | 0.759 | deleterious | None | None | None | None | N |
| W/E | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -1.351 | Destabilizing | 0.996 | D | 0.756 | deleterious | None | None | None | None | N |
| W/F | 0.7379 | likely_pathogenic | 0.7273 | pathogenic | -1.713 | Destabilizing | 0.987 | D | 0.588 | neutral | None | None | None | None | N |
| W/G | 0.9745 | likely_pathogenic | 0.9681 | pathogenic | -3.022 | Highly Destabilizing | 0.983 | D | 0.627 | neutral | D | 0.544483821 | None | None | N |
| W/H | 0.9947 | likely_pathogenic | 0.994 | pathogenic | -1.36 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| W/I | 0.9904 | likely_pathogenic | 0.9888 | pathogenic | -2.088 | Highly Destabilizing | 0.975 | D | 0.76 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.531 | Destabilizing | 0.987 | D | 0.757 | deleterious | None | None | None | None | N |
| W/L | 0.9778 | likely_pathogenic | 0.9728 | pathogenic | -2.088 | Highly Destabilizing | 0.805 | D | 0.569 | neutral | D | 0.525619097 | None | None | N |
| W/M | 0.9902 | likely_pathogenic | 0.9879 | pathogenic | -1.548 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| W/N | 0.9952 | likely_pathogenic | 0.9943 | pathogenic | -1.894 | Destabilizing | 0.996 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/P | 0.9939 | likely_pathogenic | 0.9928 | pathogenic | -2.346 | Highly Destabilizing | 0.996 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.868 | Destabilizing | 0.996 | D | 0.716 | prob.delet. | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.987 | Destabilizing | 0.994 | D | 0.746 | deleterious | D | 0.5449908 | None | None | N |
| W/S | 0.9906 | likely_pathogenic | 0.988 | pathogenic | -2.341 | Highly Destabilizing | 0.967 | D | 0.743 | deleterious | D | 0.531441994 | None | None | N |
| W/T | 0.9925 | likely_pathogenic | 0.9911 | pathogenic | -2.221 | Highly Destabilizing | 0.975 | D | 0.65 | neutral | None | None | None | None | N |
| W/V | 0.9903 | likely_pathogenic | 0.9884 | pathogenic | -2.346 | Highly Destabilizing | 0.975 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8357 | likely_pathogenic | 0.8337 | pathogenic | -1.563 | Destabilizing | 0.996 | D | 0.586 | 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.