Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23024 | 69295;69296;69297 | chr2:178577265;178577264;178577263 | chr2:179441992;179441991;179441990 |
| N2AB | 21383 | 64372;64373;64374 | chr2:178577265;178577264;178577263 | chr2:179441992;179441991;179441990 |
| N2A | 20456 | 61591;61592;61593 | chr2:178577265;178577264;178577263 | chr2:179441992;179441991;179441990 |
| N2B | 13959 | 42100;42101;42102 | chr2:178577265;178577264;178577263 | chr2:179441992;179441991;179441990 |
| Novex-1 | 14084 | 42475;42476;42477 | chr2:178577265;178577264;178577263 | chr2:179441992;179441991;179441990 |
| Novex-2 | 14151 | 42676;42677;42678 | chr2:178577265;178577264;178577263 | chr2:179441992;179441991;179441990 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs1205211838  |
-0.926 | 0.999 | N | 0.572 | 0.632 | 0.303123707472 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs1205211838 |
-0.926 | 0.999 | N | 0.572 | 0.632 | 0.303123707472 | gnomAD-4.0.0 | 3.18511E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78598E-05 | None | 0 | 0 | 2.85994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9952 | likely_pathogenic | 0.9942 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| N/C | 0.955 | likely_pathogenic | 0.9491 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| N/D | 0.9907 | likely_pathogenic | 0.9897 | pathogenic | -0.959 | Destabilizing | 0.999 | D | 0.599 | neutral | D | 0.54847352 | None | None | N |
| N/E | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.866 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| N/F | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/G | 0.988 | likely_pathogenic | 0.9867 | pathogenic | -1.379 | Destabilizing | 0.999 | D | 0.551 | neutral | None | None | None | None | N |
| N/H | 0.9656 | likely_pathogenic | 0.9634 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.526863773 | None | None | N |
| N/I | 0.9901 | likely_pathogenic | 0.9898 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.531890202 | None | None | N |
| N/K | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.549233989 | None | None | N |
| N/L | 0.9752 | likely_pathogenic | 0.9768 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| N/M | 0.9933 | likely_pathogenic | 0.9933 | pathogenic | 0.35 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/P | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/Q | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| N/R | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| N/S | 0.6578 | likely_pathogenic | 0.636 | pathogenic | -0.995 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.498907242 | None | None | N |
| N/T | 0.9445 | likely_pathogenic | 0.9382 | pathogenic | -0.717 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | D | 0.530622755 | None | None | N |
| N/V | 0.9904 | likely_pathogenic | 0.9891 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9931 | likely_pathogenic | 0.9936 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.549740968 | 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.