Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1376 | 4351;4352;4353 | chr2:178778956;178778955;178778954 | chr2:179643683;179643682;179643681 |
| N2AB | 1376 | 4351;4352;4353 | chr2:178778956;178778955;178778954 | chr2:179643683;179643682;179643681 |
| N2A | 1376 | 4351;4352;4353 | chr2:178778956;178778955;178778954 | chr2:179643683;179643682;179643681 |
| N2B | 1330 | 4213;4214;4215 | chr2:178778956;178778955;178778954 | chr2:179643683;179643682;179643681 |
| Novex-1 | 1330 | 4213;4214;4215 | chr2:178778956;178778955;178778954 | chr2:179643683;179643682;179643681 |
| Novex-2 | 1330 | 4213;4214;4215 | chr2:178778956;178778955;178778954 | chr2:179643683;179643682;179643681 |
| Novex-3 | 1376 | 4351;4352;4353 | chr2:178778956;178778955;178778954 | chr2:179643683;179643682;179643681 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1060500425  |
-0.345 | 1.0 | D | 0.895 | 0.723 | 0.442977140156 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| S/P | rs1060500425 |
-0.345 | 1.0 | D | 0.895 | 0.723 | 0.442977140156 | gnomAD-4.0.0 | 1.59086E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85708E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.446 | ambiguous | 0.3646 | ambiguous | -0.629 | Destabilizing | 0.997 | D | 0.555 | neutral | D | 0.530081428 | None | None | N |
| S/C | 0.7173 | likely_pathogenic | 0.6145 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| S/D | 0.9957 | likely_pathogenic | 0.992 | pathogenic | 0.21 | Stabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/E | 0.9915 | likely_pathogenic | 0.984 | pathogenic | 0.15 | Stabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| S/F | 0.9801 | likely_pathogenic | 0.951 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| S/G | 0.7929 | likely_pathogenic | 0.7254 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| S/H | 0.9693 | likely_pathogenic | 0.9424 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| S/I | 0.9566 | likely_pathogenic | 0.9296 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| S/K | 0.9979 | likely_pathogenic | 0.9963 | pathogenic | -0.549 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/L | 0.9167 | likely_pathogenic | 0.8521 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.629259041 | None | None | N |
| S/M | 0.9308 | likely_pathogenic | 0.8753 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| S/N | 0.9678 | likely_pathogenic | 0.9428 | pathogenic | -0.293 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| S/P | 0.9957 | likely_pathogenic | 0.995 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.596259428 | None | None | N |
| S/Q | 0.9764 | likely_pathogenic | 0.9585 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| S/R | 0.9947 | likely_pathogenic | 0.9913 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| S/T | 0.5083 | ambiguous | 0.4235 | ambiguous | -0.428 | Destabilizing | 0.999 | D | 0.597 | neutral | N | 0.486033241 | None | None | N |
| S/V | 0.9298 | likely_pathogenic | 0.8841 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| S/W | 0.9846 | likely_pathogenic | 0.965 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| S/Y | 0.9699 | likely_pathogenic | 0.9312 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.927 | 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.