Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3429 | 10510;10511;10512 | chr2:178759002;178759001;178759000 | chr2:179623729;179623728;179623727 |
| N2AB | 3429 | 10510;10511;10512 | chr2:178759002;178759001;178759000 | chr2:179623729;179623728;179623727 |
| N2A | 3429 | 10510;10511;10512 | chr2:178759002;178759001;178759000 | chr2:179623729;179623728;179623727 |
| N2B | 3383 | 10372;10373;10374 | chr2:178759002;178759001;178759000 | chr2:179623729;179623728;179623727 |
| Novex-1 | 3383 | 10372;10373;10374 | chr2:178759002;178759001;178759000 | chr2:179623729;179623728;179623727 |
| Novex-2 | 3383 | 10372;10373;10374 | chr2:178759002;178759001;178759000 | chr2:179623729;179623728;179623727 |
| Novex-3 | 3429 | 10510;10511;10512 | chr2:178759002;178759001;178759000 | chr2:179623729;179623728;179623727 |
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/D | None | None | 1.0 | D | 0.915 | 0.806 | 0.829126242355 | gnomAD-4.0.0 | 2.40066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| A/G | None | None | 1.0 | D | 0.61 | 0.573 | 0.486209434461 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7976 | likely_pathogenic | 0.8634 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/D | 0.9571 | likely_pathogenic | 0.9872 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.783079238 | None | None | N |
| A/E | 0.9591 | likely_pathogenic | 0.9855 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/F | 0.9671 | likely_pathogenic | 0.9832 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| A/G | 0.1628 | likely_benign | 0.2416 | benign | -1.325 | Destabilizing | 1.0 | D | 0.61 | neutral | D | 0.577958716 | None | None | N |
| A/H | 0.9811 | likely_pathogenic | 0.9921 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| A/I | 0.9156 | likely_pathogenic | 0.9675 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| A/K | 0.9745 | likely_pathogenic | 0.9919 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/L | 0.86 | likely_pathogenic | 0.9309 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/M | 0.888 | likely_pathogenic | 0.9444 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/N | 0.9453 | likely_pathogenic | 0.9786 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| A/P | 0.9913 | likely_pathogenic | 0.994 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.783079238 | None | None | N |
| A/Q | 0.9402 | likely_pathogenic | 0.9749 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| A/R | 0.9329 | likely_pathogenic | 0.9709 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| A/S | 0.2372 | likely_benign | 0.2873 | benign | -1.442 | Destabilizing | 1.0 | D | 0.624 | neutral | D | 0.651903585 | None | None | N |
| A/T | 0.381 | ambiguous | 0.5814 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.576279824 | None | None | N |
| A/V | 0.6463 | likely_pathogenic | 0.7969 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.569021755 | None | None | N |
| A/W | 0.9954 | likely_pathogenic | 0.9978 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/Y | 0.9851 | likely_pathogenic | 0.9928 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.922 | 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.