Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9743 | 29452;29453;29454 | chr2:178706647;178706646;178706645 | chr2:179571374;179571373;179571372 |
| N2AB | 9426 | 28501;28502;28503 | chr2:178706647;178706646;178706645 | chr2:179571374;179571373;179571372 |
| N2A | 8499 | 25720;25721;25722 | chr2:178706647;178706646;178706645 | chr2:179571374;179571373;179571372 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | None | 0.561 | 0.46 | 0.307016933798 | gnomAD-4.0.0 | 3.18201E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71562E-06 | 0 | 0 |
| G/S | rs368073588  |
-0.55 | 1.0 | None | 0.617 | 0.346 | None | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.31E-05 | 0 |
| G/S | rs368073588 |
-0.55 | 1.0 | None | 0.617 | 0.346 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs368073588 |
-0.55 | 1.0 | None | 0.617 | 0.346 | None | gnomAD-4.0.0 | 1.92092E-05 | None | None | None | None | I | None | 1.33476E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5427E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5621 | ambiguous | 0.402 | ambiguous | -0.331 | Destabilizing | 1.0 | D | 0.515 | neutral | None | None | None | None | I |
| G/C | 0.8657 | likely_pathogenic | 0.6891 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/D | 0.8864 | likely_pathogenic | 0.7272 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.561 | neutral | None | None | None | None | I |
| G/E | 0.9107 | likely_pathogenic | 0.744 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| G/F | 0.9445 | likely_pathogenic | 0.8458 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/H | 0.9297 | likely_pathogenic | 0.8371 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | I |
| G/I | 0.8784 | likely_pathogenic | 0.6956 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/K | 0.9179 | likely_pathogenic | 0.7974 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| G/L | 0.9162 | likely_pathogenic | 0.8106 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/M | 0.9297 | likely_pathogenic | 0.8292 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/N | 0.764 | likely_pathogenic | 0.6352 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | I |
| G/P | 0.9529 | likely_pathogenic | 0.9247 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | I |
| G/Q | 0.8767 | likely_pathogenic | 0.7343 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| G/R | 0.8558 | likely_pathogenic | 0.6511 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | I |
| G/S | 0.314 | likely_benign | 0.2168 | benign | -0.751 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | I |
| G/T | 0.703 | likely_pathogenic | 0.5263 | ambiguous | -0.774 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
| G/V | 0.8252 | likely_pathogenic | 0.5917 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/W | 0.9122 | likely_pathogenic | 0.7564 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9284 | likely_pathogenic | 0.8104 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
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.