Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16083 | 48472;48473;48474 | chr2:178616544;178616543;178616542 | chr2:179481271;179481270;179481269 |
| N2AB | 14442 | 43549;43550;43551 | chr2:178616544;178616543;178616542 | chr2:179481271;179481270;179481269 |
| N2A | 13515 | 40768;40769;40770 | chr2:178616544;178616543;178616542 | chr2:179481271;179481270;179481269 |
| N2B | 7018 | 21277;21278;21279 | chr2:178616544;178616543;178616542 | chr2:179481271;179481270;179481269 |
| Novex-1 | 7143 | 21652;21653;21654 | chr2:178616544;178616543;178616542 | chr2:179481271;179481270;179481269 |
| Novex-2 | 7210 | 21853;21854;21855 | chr2:178616544;178616543;178616542 | chr2:179481271;179481270;179481269 |
| 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 | rs778888847  |
-1.146 | 1.0 | D | 0.859 | 0.502 | 0.524946584802 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.55E-05 | None | 0 | 0 | 0 |
| G/E | rs778888847 |
-1.146 | 1.0 | D | 0.859 | 0.502 | 0.524946584802 | gnomAD-4.0.0 | 4.78191E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86367E-06 | 2.86821E-05 | 0 |
| G/R | rs745429154 |
-0.125 | 1.0 | D | 0.85 | 0.517 | 0.61117527565 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs745429154 |
-0.125 | 1.0 | D | 0.85 | 0.517 | 0.61117527565 | gnomAD-4.0.0 | 1.594E-06 | None | None | None | None | I | None | 0 | 2.28885E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9174 | likely_pathogenic | 0.9498 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.706256488 | None | None | I |
| G/C | 0.9649 | likely_pathogenic | 0.9817 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/D | 0.991 | likely_pathogenic | 0.9944 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/E | 0.9939 | likely_pathogenic | 0.9962 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.719788412 | None | None | I |
| G/F | 0.9964 | likely_pathogenic | 0.9977 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.9962 | likely_pathogenic | 0.998 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/I | 0.9965 | likely_pathogenic | 0.9978 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/K | 0.9955 | likely_pathogenic | 0.9969 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/L | 0.9943 | likely_pathogenic | 0.9967 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/M | 0.9975 | likely_pathogenic | 0.9985 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/N | 0.993 | likely_pathogenic | 0.9961 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/Q | 0.9942 | likely_pathogenic | 0.9966 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/R | 0.9817 | likely_pathogenic | 0.9881 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.632446025 | None | None | I |
| G/S | 0.9052 | likely_pathogenic | 0.9453 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/T | 0.9886 | likely_pathogenic | 0.9937 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9928 | likely_pathogenic | 0.9959 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.676818373 | None | None | I |
| G/W | 0.9902 | likely_pathogenic | 0.9943 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/Y | 0.9953 | likely_pathogenic | 0.9972 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.811 | 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.