Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7329 | 22210;22211;22212 | chr2:178722914;178722913;178722912 | chr2:179587641;179587640;179587639 |
| N2AB | 7012 | 21259;21260;21261 | chr2:178722914;178722913;178722912 | chr2:179587641;179587640;179587639 |
| N2A | 6085 | 18478;18479;18480 | chr2:178722914;178722913;178722912 | chr2:179587641;179587640;179587639 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs1347470734  |
-1.722 | 0.332 | N | 0.515 | 0.218 | 0.603196339416 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| L/P | rs1347470734 |
-1.722 | 0.332 | N | 0.515 | 0.218 | 0.603196339416 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/P | rs1347470734 |
-1.722 | 0.332 | N | 0.515 | 0.218 | 0.603196339416 | gnomAD-4.0.0 | 6.20374E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23404E-05 | None | 0 | 0 | 7.63408E-06 | 0 | 0 |
| L/Q | rs1347470734 |
None | 0.998 | N | 0.712 | 0.324 | 0.713499608239 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/Q | rs1347470734 |
None | 0.998 | N | 0.712 | 0.324 | 0.713499608239 | gnomAD-4.0.0 | 6.57212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.578 | likely_pathogenic | 0.8496 | pathogenic | -2.233 | Highly Destabilizing | 0.995 | D | 0.562 | neutral | None | None | None | None | N |
| L/C | 0.8735 | likely_pathogenic | 0.9602 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| L/D | 0.9832 | likely_pathogenic | 0.9971 | pathogenic | -1.96 | Destabilizing | 0.397 | N | 0.512 | neutral | None | None | None | None | N |
| L/E | 0.91 | likely_pathogenic | 0.9821 | pathogenic | -1.86 | Destabilizing | 0.987 | D | 0.676 | prob.neutral | None | None | None | None | N |
| L/F | 0.5341 | ambiguous | 0.8137 | pathogenic | -1.463 | Destabilizing | 0.208 | N | 0.177 | neutral | None | None | None | None | N |
| L/G | 0.8848 | likely_pathogenic | 0.9726 | pathogenic | -2.664 | Highly Destabilizing | 0.998 | D | 0.674 | neutral | None | None | None | None | N |
| L/H | 0.9155 | likely_pathogenic | 0.9857 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| L/I | 0.1691 | likely_benign | 0.3199 | benign | -1.048 | Destabilizing | 0.861 | D | 0.517 | neutral | None | None | None | None | N |
| L/K | 0.917 | likely_pathogenic | 0.9809 | pathogenic | -1.461 | Destabilizing | 0.978 | D | 0.691 | prob.neutral | None | None | None | None | N |
| L/M | 0.1755 | likely_benign | 0.3065 | benign | -0.964 | Destabilizing | 0.998 | D | 0.599 | neutral | N | 0.468586264 | None | None | N |
| L/N | 0.9271 | likely_pathogenic | 0.9844 | pathogenic | -1.456 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| L/P | 0.4178 | ambiguous | 0.7746 | pathogenic | -1.418 | Destabilizing | 0.332 | N | 0.515 | neutral | N | 0.475524953 | None | None | N |
| L/Q | 0.7696 | likely_pathogenic | 0.9523 | pathogenic | -1.535 | Destabilizing | 0.998 | D | 0.712 | prob.delet. | N | 0.480196059 | None | None | N |
| L/R | 0.8644 | likely_pathogenic | 0.971 | pathogenic | -1.013 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | N | 0.496489889 | None | None | N |
| L/S | 0.8697 | likely_pathogenic | 0.9785 | pathogenic | -2.189 | Highly Destabilizing | 0.995 | D | 0.632 | neutral | None | None | None | None | N |
| L/T | 0.5876 | likely_pathogenic | 0.8818 | pathogenic | -1.959 | Destabilizing | 0.992 | D | 0.631 | neutral | None | None | None | None | N |
| L/V | 0.1866 | likely_benign | 0.384 | ambiguous | -1.418 | Destabilizing | 0.86 | D | 0.509 | neutral | N | 0.479182101 | None | None | N |
| L/W | 0.8377 | likely_pathogenic | 0.9715 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | N |
| L/Y | 0.9237 | likely_pathogenic | 0.9862 | pathogenic | -1.391 | Destabilizing | 0.945 | D | 0.709 | 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.