Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23511 | 70756;70757;70758 | chr2:178575601;178575600;178575599 | chr2:179440328;179440327;179440326 |
| N2AB | 21870 | 65833;65834;65835 | chr2:178575601;178575600;178575599 | chr2:179440328;179440327;179440326 |
| N2A | 20943 | 63052;63053;63054 | chr2:178575601;178575600;178575599 | chr2:179440328;179440327;179440326 |
| N2B | 14446 | 43561;43562;43563 | chr2:178575601;178575600;178575599 | chr2:179440328;179440327;179440326 |
| Novex-1 | 14571 | 43936;43937;43938 | chr2:178575601;178575600;178575599 | chr2:179440328;179440327;179440326 |
| Novex-2 | 14638 | 44137;44138;44139 | chr2:178575601;178575600;178575599 | chr2:179440328;179440327;179440326 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1709793052  |
None | 1.0 | N | 0.609 | 0.642 | 0.528561964389 | gnomAD-4.0.0 | 5.4741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19641E-06 | 0 | 0 |
| A/T | rs1423033072 |
-1.82 | 1.0 | D | 0.791 | 0.7 | 0.550926910813 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1423033072 |
-1.82 | 1.0 | D | 0.791 | 0.7 | 0.550926910813 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77377E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9264 | likely_pathogenic | 0.9463 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/D | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -2.949 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/E | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -2.719 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.573624073 | None | None | N |
| A/F | 0.9971 | likely_pathogenic | 0.9977 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/G | 0.3384 | likely_benign | 0.3432 | ambiguous | -2.103 | Highly Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.505295203 | None | None | N |
| A/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/I | 0.99 | likely_pathogenic | 0.9947 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/L | 0.9471 | likely_pathogenic | 0.9601 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/M | 0.9801 | likely_pathogenic | 0.9872 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/N | 0.9958 | likely_pathogenic | 0.9971 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/P | 0.6372 | likely_pathogenic | 0.664 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.51528561 | None | None | N |
| A/Q | 0.9955 | likely_pathogenic | 0.9959 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/R | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/S | 0.5487 | ambiguous | 0.6147 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.518244443 | None | None | N |
| A/T | 0.9067 | likely_pathogenic | 0.9521 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.546944535 | None | None | N |
| A/V | 0.9302 | likely_pathogenic | 0.9598 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.553491902 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/Y | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.891 | deleterious | 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.