Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9723 | 29392;29393;29394 | chr2:178706707;178706706;178706705 | chr2:179571434;179571433;179571432 |
| N2AB | 9406 | 28441;28442;28443 | chr2:178706707;178706706;178706705 | chr2:179571434;179571433;179571432 |
| N2A | 8479 | 25660;25661;25662 | chr2:178706707;178706706;178706705 | chr2:179571434;179571433;179571432 |
| 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/D | rs1416686981  |
-1.01 | 1.0 | None | 0.853 | 0.61 | 0.668130645813 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.31E-05 | None | 0 | 0 | 0 |
| G/D | rs1416686981 |
-1.01 | 1.0 | None | 0.853 | 0.61 | 0.668130645813 | gnomAD-4.0.0 | 1.5994E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44013E-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 | 0.9386 | likely_pathogenic | 0.815 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/C | 0.99 | likely_pathogenic | 0.9565 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/D | 0.9933 | likely_pathogenic | 0.9827 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/E | 0.996 | likely_pathogenic | 0.9883 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/F | 0.9978 | likely_pathogenic | 0.9934 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/H | 0.9988 | likely_pathogenic | 0.9953 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.9874 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/K | 0.9971 | likely_pathogenic | 0.9931 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/L | 0.9972 | likely_pathogenic | 0.9916 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.9947 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/N | 0.9958 | likely_pathogenic | 0.987 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9981 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/Q | 0.9972 | likely_pathogenic | 0.9905 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.993 | likely_pathogenic | 0.9789 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/S | 0.9309 | likely_pathogenic | 0.775 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/T | 0.9901 | likely_pathogenic | 0.9679 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/V | 0.9933 | likely_pathogenic | 0.9771 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/W | 0.9945 | likely_pathogenic | 0.9821 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9981 | likely_pathogenic | 0.9936 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
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.