Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18523 | 55792;55793;55794 | chr2:178601430;178601429;178601428 | chr2:179466157;179466156;179466155 |
| N2AB | 16882 | 50869;50870;50871 | chr2:178601430;178601429;178601428 | chr2:179466157;179466156;179466155 |
| N2A | 15955 | 48088;48089;48090 | chr2:178601430;178601429;178601428 | chr2:179466157;179466156;179466155 |
| N2B | 9458 | 28597;28598;28599 | chr2:178601430;178601429;178601428 | chr2:179466157;179466156;179466155 |
| Novex-1 | 9583 | 28972;28973;28974 | chr2:178601430;178601429;178601428 | chr2:179466157;179466156;179466155 |
| Novex-2 | 9650 | 29173;29174;29175 | chr2:178601430;178601429;178601428 | chr2:179466157;179466156;179466155 |
| 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/A | None | None | 0.998 | N | 0.485 | 0.331 | 0.348101942276 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | rs1357033884  |
-0.267 | 0.999 | N | 0.73 | 0.444 | 0.58934274002 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2084 | likely_benign | 0.268 | benign | -0.266 | Destabilizing | 0.998 | D | 0.485 | neutral | N | 0.478424478 | None | None | N |
| G/C | 0.3354 | likely_benign | 0.4506 | ambiguous | -0.845 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/D | 0.5175 | ambiguous | 0.6508 | pathogenic | -0.676 | Destabilizing | 0.504 | D | 0.378 | neutral | None | None | None | None | N |
| G/E | 0.4983 | ambiguous | 0.6221 | pathogenic | -0.852 | Destabilizing | 0.998 | D | 0.597 | neutral | N | 0.477672329 | None | None | N |
| G/F | 0.8134 | likely_pathogenic | 0.8847 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/H | 0.6047 | likely_pathogenic | 0.7324 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/I | 0.5738 | likely_pathogenic | 0.7263 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/K | 0.6557 | likely_pathogenic | 0.7819 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| G/L | 0.6418 | likely_pathogenic | 0.7583 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/M | 0.653 | likely_pathogenic | 0.7516 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/N | 0.386 | ambiguous | 0.4875 | ambiguous | -0.409 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| G/P | 0.9624 | likely_pathogenic | 0.9812 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/Q | 0.4918 | ambiguous | 0.5974 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/R | 0.5183 | ambiguous | 0.6738 | pathogenic | -0.291 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | N | 0.450045798 | None | None | N |
| G/S | 0.1306 | likely_benign | 0.1626 | benign | -0.528 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| G/T | 0.2505 | likely_benign | 0.3339 | benign | -0.642 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| G/V | 0.4152 | ambiguous | 0.5676 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.493567288 | None | None | N |
| G/W | 0.6899 | likely_pathogenic | 0.8055 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| G/Y | 0.6903 | likely_pathogenic | 0.8066 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.755 | 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.