Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5050 | 15373;15374;15375 | chr2:178734776;178734775;178734774 | chr2:179599503;179599502;179599501 |
| N2AB | 4733 | 14422;14423;14424 | chr2:178734776;178734775;178734774 | chr2:179599503;179599502;179599501 |
| N2A | 3806 | 11641;11642;11643 | chr2:178734776;178734775;178734774 | chr2:179599503;179599502;179599501 |
| 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/E | None | None | 1.0 | D | 0.831 | 0.752 | 0.644967564911 | gnomAD-4.0.0 | 6.84292E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16007E-05 | 0 |
| G/R | None | None | 1.0 | D | 0.817 | 0.782 | 0.776728016343 | gnomAD-4.0.0 | 6.84219E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99483E-07 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.811 | 0.717 | 0.734331791237 | gnomAD-4.0.0 | 6.84292E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99546E-07 | 0 | 0 |
| G/W | rs908686601  |
None | 1.0 | D | 0.769 | 0.798 | 0.685419224124 | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | I | None | 2.41E-05 | 5.23766E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/W | rs908686601 |
None | 1.0 | D | 0.769 | 0.798 | 0.685419224124 | gnomAD-4.0.0 | 1.05346E-05 | None | None | None | None | I | None | 1.33458E-05 | 2.00027E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.4043E-05 |
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 | 0.3283 | likely_benign | 0.3065 | benign | -0.715 | Destabilizing | 0.974 | D | 0.647 | neutral | D | 0.661276768 | None | None | I |
| G/C | 0.7987 | likely_pathogenic | 0.7663 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| G/D | 0.8713 | likely_pathogenic | 0.8702 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/E | 0.9302 | likely_pathogenic | 0.9323 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.80272338 | None | None | I |
| G/F | 0.9793 | likely_pathogenic | 0.9766 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/H | 0.9763 | likely_pathogenic | 0.9736 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/I | 0.9686 | likely_pathogenic | 0.9639 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9797 | likely_pathogenic | 0.98 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/L | 0.9568 | likely_pathogenic | 0.9532 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/M | 0.9672 | likely_pathogenic | 0.9635 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/N | 0.9084 | likely_pathogenic | 0.9068 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Q | 0.9378 | likely_pathogenic | 0.9318 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/R | 0.935 | likely_pathogenic | 0.9299 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.836590396 | None | None | I |
| G/S | 0.3314 | likely_benign | 0.2944 | benign | -1.17 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/T | 0.8394 | likely_pathogenic | 0.8067 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/V | 0.9174 | likely_pathogenic | 0.9061 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.80272338 | None | None | I |
| G/W | 0.9772 | likely_pathogenic | 0.9743 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.836016848 | None | None | I |
| G/Y | 0.9764 | likely_pathogenic | 0.9736 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.809 | 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.