Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23 | 292;293;294 | chr2:178804576;178804575;178804574 | chr2:179669303;179669302;179669301 |
| N2AB | 23 | 292;293;294 | chr2:178804576;178804575;178804574 | chr2:179669303;179669302;179669301 |
| N2A | 23 | 292;293;294 | chr2:178804576;178804575;178804574 | chr2:179669303;179669302;179669301 |
| N2B | 23 | 292;293;294 | chr2:178804576;178804575;178804574 | chr2:179669303;179669302;179669301 |
| Novex-1 | 23 | 292;293;294 | chr2:178804576;178804575;178804574 | chr2:179669303;179669302;179669301 |
| Novex-2 | 23 | 292;293;294 | chr2:178804576;178804575;178804574 | chr2:179669303;179669302;179669301 |
| Novex-3 | 23 | 292;293;294 | chr2:178804576;178804575;178804574 | chr2:179669303;179669302;179669301 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs147812158  |
-1.267 | 1.0 | D | 0.709 | 0.432 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.279(TCAP) | N | None | 6.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs147812158 |
-1.267 | 1.0 | D | 0.709 | 0.432 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | -1.279(TCAP) | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs147812158 |
-1.267 | 1.0 | D | 0.709 | 0.432 | None | gnomAD-4.0.0 | 9.29486E-06 | None | None | None | -1.279(TCAP) | N | None | 1.33522E-05 | 1.66722E-05 | None | 0 | 1.55999E-04 | None | 0 | 0 | 4.23748E-06 | 1.09849E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9144 | likely_pathogenic | 0.8989 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | -1.454(TCAP) | N |
| A/D | 0.9705 | likely_pathogenic | 0.9762 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | -1.186(TCAP) | N |
| A/E | 0.9388 | likely_pathogenic | 0.9523 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.705808716 | None | -1.363(TCAP) | N |
| A/F | 0.9201 | likely_pathogenic | 0.926 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | -1.188(TCAP) | N |
| A/G | 0.3604 | ambiguous | 0.3717 | ambiguous | -1.17 | Destabilizing | 0.999 | D | 0.609 | neutral | D | 0.598381332 | None | -1.057(TCAP) | N |
| A/H | 0.9793 | likely_pathogenic | 0.9829 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | -0.571(TCAP) | N |
| A/I | 0.6336 | likely_pathogenic | 0.6433 | pathogenic | 0.241 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | -1.568(TCAP) | N |
| A/K | 0.9779 | likely_pathogenic | 0.9824 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | -1.816(TCAP) | N |
| A/L | 0.6314 | likely_pathogenic | 0.6348 | pathogenic | 0.241 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | -1.568(TCAP) | N |
| A/M | 0.7101 | likely_pathogenic | 0.7186 | pathogenic | -0.025 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | -1.516(TCAP) | N |
| A/N | 0.9406 | likely_pathogenic | 0.951 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | -1.407(TCAP) | N |
| A/P | 0.9743 | likely_pathogenic | 0.9757 | pathogenic | -0.048 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.705808716 | None | -1.438(TCAP) | N |
| A/Q | 0.9246 | likely_pathogenic | 0.9373 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | -1.49(TCAP) | N |
| A/R | 0.9573 | likely_pathogenic | 0.9641 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -1.779(TCAP) | N |
| A/S | 0.2607 | likely_benign | 0.2818 | benign | -1.413 | Destabilizing | 1.0 | D | 0.636 | neutral | D | 0.629848729 | None | -1.086(TCAP) | N |
| A/T | 0.2333 | likely_benign | 0.2522 | benign | -1.168 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.550313865 | None | -1.279(TCAP) | N |
| A/V | 0.2784 | likely_benign | 0.2832 | benign | -0.048 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.42284633 | None | -1.438(TCAP) | N |
| A/W | 0.9955 | likely_pathogenic | 0.9961 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | -1.279(TCAP) | N |
| A/Y | 0.9765 | likely_pathogenic | 0.9796 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | -1.213(TCAP) | 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.