Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8945 | 27058;27059;27060 | chr2:178713301;178713300;178713299 | chr2:179578028;179578027;179578026 |
| N2AB | 8628 | 26107;26108;26109 | chr2:178713301;178713300;178713299 | chr2:179578028;179578027;179578026 |
| N2A | 7701 | 23326;23327;23328 | chr2:178713301;178713300;178713299 | chr2:179578028;179578027;179578026 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs778950787  |
-0.47 | 0.047 | N | 0.451 | 0.204 | 0.404315859256 | gnomAD-2.1.1 | 8.95E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.03E-05 | 0 |
| M/I | rs778950787 |
-0.47 | 0.047 | N | 0.451 | 0.204 | 0.404315859256 | gnomAD-4.0.0 | 1.62758E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9217E-06 | 0 | 0 |
| M/T | None | None | 0.351 | N | 0.617 | 0.476 | 0.830215370262 | gnomAD-4.0.0 | 1.38266E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06155E-07 | 0 | 1.66973E-05 |
| M/V | rs1300614225 |
-0.985 | 0.047 | N | 0.434 | 0.209 | 0.412715890961 | gnomAD-2.1.1 | 4.51E-06 | None | None | None | None | N | None | 0 | 3.21E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/V | rs1300614225 |
-0.985 | 0.047 | N | 0.434 | 0.209 | 0.412715890961 | gnomAD-4.0.0 | 1.63025E-06 | None | None | None | None | N | None | 0 | 2.4246E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.8192 | likely_pathogenic | 0.8541 | pathogenic | -2.293 | Highly Destabilizing | 0.228 | N | 0.579 | neutral | None | None | None | None | N |
| M/C | 0.9413 | likely_pathogenic | 0.954 | pathogenic | -2.092 | Highly Destabilizing | 0.94 | D | 0.744 | deleterious | None | None | None | None | N |
| M/D | 0.9965 | likely_pathogenic | 0.998 | pathogenic | -1.961 | Destabilizing | 0.94 | D | 0.788 | deleterious | None | None | None | None | N |
| M/E | 0.9718 | likely_pathogenic | 0.982 | pathogenic | -1.715 | Destabilizing | 0.593 | D | 0.725 | prob.delet. | None | None | None | None | N |
| M/F | 0.3981 | ambiguous | 0.4082 | ambiguous | -0.876 | Destabilizing | 0.264 | N | 0.576 | neutral | None | None | None | None | N |
| M/G | 0.9551 | likely_pathogenic | 0.9666 | pathogenic | -2.783 | Highly Destabilizing | 0.593 | D | 0.73 | prob.delet. | None | None | None | None | N |
| M/H | 0.9632 | likely_pathogenic | 0.9752 | pathogenic | -2.305 | Highly Destabilizing | 0.983 | D | 0.82 | deleterious | None | None | None | None | N |
| M/I | 0.5231 | ambiguous | 0.5822 | pathogenic | -0.87 | Destabilizing | 0.047 | N | 0.451 | neutral | N | 0.434106058 | None | None | N |
| M/K | 0.861 | likely_pathogenic | 0.9168 | pathogenic | -1.3 | Destabilizing | 0.523 | D | 0.616 | neutral | N | 0.486226215 | None | None | N |
| M/L | 0.0953 | likely_benign | 0.0956 | benign | -0.87 | Destabilizing | None | N | 0.236 | neutral | N | 0.333122626 | None | None | N |
| M/N | 0.9761 | likely_pathogenic | 0.9855 | pathogenic | -1.726 | Destabilizing | 0.94 | D | 0.763 | deleterious | None | None | None | None | N |
| M/P | 0.9915 | likely_pathogenic | 0.9937 | pathogenic | -1.328 | Destabilizing | 0.94 | D | 0.764 | deleterious | None | None | None | None | N |
| M/Q | 0.8866 | likely_pathogenic | 0.9189 | pathogenic | -1.407 | Destabilizing | 0.94 | D | 0.653 | neutral | None | None | None | None | N |
| M/R | 0.8624 | likely_pathogenic | 0.9178 | pathogenic | -1.414 | Destabilizing | 0.523 | D | 0.708 | prob.delet. | N | 0.486226215 | None | None | N |
| M/S | 0.9355 | likely_pathogenic | 0.9537 | pathogenic | -2.291 | Highly Destabilizing | 0.593 | D | 0.622 | neutral | None | None | None | None | N |
| M/T | 0.767 | likely_pathogenic | 0.8262 | pathogenic | -1.908 | Destabilizing | 0.351 | N | 0.617 | neutral | N | 0.485972726 | None | None | N |
| M/V | 0.2053 | likely_benign | 0.2323 | benign | -1.328 | Destabilizing | 0.047 | N | 0.434 | neutral | N | 0.466045118 | None | None | N |
| M/W | 0.8722 | likely_pathogenic | 0.8955 | pathogenic | -1.147 | Destabilizing | 0.983 | D | 0.736 | prob.delet. | None | None | None | None | N |
| M/Y | 0.8761 | likely_pathogenic | 0.9009 | pathogenic | -1.129 | Destabilizing | 0.836 | D | 0.719 | prob.delet. | 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.