Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25030 | 75313;75314;75315 | chr2:178571044;178571043;178571042 | chr2:179435771;179435770;179435769 |
| N2AB | 23389 | 70390;70391;70392 | chr2:178571044;178571043;178571042 | chr2:179435771;179435770;179435769 |
| N2A | 22462 | 67609;67610;67611 | chr2:178571044;178571043;178571042 | chr2:179435771;179435770;179435769 |
| N2B | 15965 | 48118;48119;48120 | chr2:178571044;178571043;178571042 | chr2:179435771;179435770;179435769 |
| Novex-1 | 16090 | 48493;48494;48495 | chr2:178571044;178571043;178571042 | chr2:179435771;179435770;179435769 |
| Novex-2 | 16157 | 48694;48695;48696 | chr2:178571044;178571043;178571042 | chr2:179435771;179435770;179435769 |
| 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/L | None | None | 1.0 | D | 0.895 | 0.762 | 0.919050959195 | gnomAD-4.0.0 | 6.84819E-07 | None | None | None | None | N | None | 2.99133E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8774 | likely_pathogenic | 0.8485 | pathogenic | -2.0 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.603254394 | None | None | N |
| P/C | 0.9927 | likely_pathogenic | 0.9896 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/D | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -2.74 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/E | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -2.682 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/G | 0.9875 | likely_pathogenic | 0.9851 | pathogenic | -2.387 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/H | 0.9964 | likely_pathogenic | 0.9956 | pathogenic | -2.164 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.659377519 | None | None | N |
| P/I | 0.9948 | likely_pathogenic | 0.9921 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/K | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/L | 0.9757 | likely_pathogenic | 0.9658 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.659175715 | None | None | N |
| P/M | 0.9952 | likely_pathogenic | 0.9932 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/N | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/Q | 0.995 | likely_pathogenic | 0.9937 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/R | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.599943368 | None | None | N |
| P/S | 0.977 | likely_pathogenic | 0.9721 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.571740722 | None | None | N |
| P/T | 0.9777 | likely_pathogenic | 0.9707 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.608099491 | None | None | N |
| P/V | 0.9815 | likely_pathogenic | 0.9744 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.642 | 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.