Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31910 | 95953;95954;95955 | chr2:178544501;178544500;178544499 | chr2:179409228;179409227;179409226 |
| N2AB | 30269 | 91030;91031;91032 | chr2:178544501;178544500;178544499 | chr2:179409228;179409227;179409226 |
| N2A | 29342 | 88249;88250;88251 | chr2:178544501;178544500;178544499 | chr2:179409228;179409227;179409226 |
| N2B | 22845 | 68758;68759;68760 | chr2:178544501;178544500;178544499 | chr2:179409228;179409227;179409226 |
| Novex-1 | 22970 | 69133;69134;69135 | chr2:178544501;178544500;178544499 | chr2:179409228;179409227;179409226 |
| Novex-2 | 23037 | 69334;69335;69336 | chr2:178544501;178544500;178544499 | chr2:179409228;179409227;179409226 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.999 | D | 0.805 | 0.45 | 0.529060795929 | gnomAD-4.0.0 | 1.65955E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.14446E-05 |
| P/L | None | None | 1.0 | D | 0.854 | 0.437 | 0.729033515045 | gnomAD-4.0.0 | 6.94496E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.12129E-07 | 0 | 0 |
| P/S | rs199618831  |
-2.555 | 1.0 | D | 0.759 | 0.464 | 0.524480850804 | gnomAD-2.1.1 | 8.39E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.84E-05 | 0 |
| P/S | rs199618831 |
-2.555 | 1.0 | D | 0.759 | 0.464 | 0.524480850804 | gnomAD-4.0.0 | 4.97866E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.98008E-04 | 3.00582E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6622 | likely_pathogenic | 0.4862 | ambiguous | -1.813 | Destabilizing | 0.999 | D | 0.805 | deleterious | D | 0.536163525 | None | None | N |
| P/C | 0.9742 | likely_pathogenic | 0.9499 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9979 | pathogenic | -3.184 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/E | 0.9959 | likely_pathogenic | 0.9916 | pathogenic | -3.096 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/F | 0.9986 | likely_pathogenic | 0.9972 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/G | 0.9847 | likely_pathogenic | 0.9668 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/H | 0.9952 | likely_pathogenic | 0.9898 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.555535228 | None | None | N |
| P/I | 0.978 | likely_pathogenic | 0.9609 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/K | 0.9973 | likely_pathogenic | 0.995 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/L | 0.928 | likely_pathogenic | 0.8725 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.523539772 | None | None | N |
| P/M | 0.9881 | likely_pathogenic | 0.9784 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.996 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/Q | 0.9916 | likely_pathogenic | 0.9812 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/R | 0.99 | likely_pathogenic | 0.9807 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.543418454 | None | None | N |
| P/S | 0.9577 | likely_pathogenic | 0.894 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.531644075 | None | None | N |
| P/T | 0.9431 | likely_pathogenic | 0.8718 | pathogenic | -2.073 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.542911475 | None | None | N |
| P/V | 0.9312 | likely_pathogenic | 0.881 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9988 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9977 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.875 | 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.