Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6143 | 18652;18653;18654 | chr2:178729826;178729825;178729824 | chr2:179594553;179594552;179594551 |
| N2AB | 5826 | 17701;17702;17703 | chr2:178729826;178729825;178729824 | chr2:179594553;179594552;179594551 |
| N2A | 4899 | 14920;14921;14922 | chr2:178729826;178729825;178729824 | chr2:179594553;179594552;179594551 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs757453585  |
-0.411 | 1.0 | D | 0.702 | 0.527 | 0.73768680617 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.88E-06 | 0 |
| G/R | rs757453585 |
-0.411 | 1.0 | D | 0.702 | 0.527 | 0.73768680617 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs757453585 |
-0.411 | 1.0 | D | 0.702 | 0.527 | 0.73768680617 | gnomAD-4.0.0 | 7.43716E-06 | None | None | None | None | N | None | 4.0063E-05 | 3.33634E-05 | None | 0 | 0 | None | 0 | 0 | 2.54293E-06 | 4.39174E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3126 | likely_benign | 0.3127 | benign | -0.323 | Destabilizing | 1.0 | D | 0.587 | neutral | D | 0.55264609 | None | None | N |
| G/C | 0.487 | ambiguous | 0.4809 | ambiguous | -0.878 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/D | 0.2202 | likely_benign | 0.2319 | benign | -0.456 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| G/E | 0.2407 | likely_benign | 0.2463 | benign | -0.587 | Destabilizing | 1.0 | D | 0.673 | neutral | D | 0.527666525 | None | None | N |
| G/F | 0.8137 | likely_pathogenic | 0.8177 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/H | 0.4793 | ambiguous | 0.4854 | ambiguous | -0.516 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/I | 0.6693 | likely_pathogenic | 0.6857 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/K | 0.3911 | ambiguous | 0.3869 | ambiguous | -0.851 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/L | 0.7441 | likely_pathogenic | 0.7487 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/M | 0.7143 | likely_pathogenic | 0.7194 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/N | 0.2883 | likely_benign | 0.2951 | benign | -0.542 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/P | 0.9695 | likely_pathogenic | 0.9698 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/Q | 0.3175 | likely_benign | 0.3214 | benign | -0.765 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/R | 0.2673 | likely_benign | 0.2687 | benign | -0.431 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.552444285 | None | None | N |
| G/S | 0.143 | likely_benign | 0.1501 | benign | -0.732 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/T | 0.3922 | ambiguous | 0.392 | ambiguous | -0.781 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/V | 0.5696 | likely_pathogenic | 0.5819 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.616571732 | None | None | N |
| G/W | 0.5404 | ambiguous | 0.561 | ambiguous | -1.091 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.616571732 | None | None | N |
| G/Y | 0.6132 | likely_pathogenic | 0.6243 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.696 | prob.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.