Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13839 | 41740;41741;41742 | chr2:178636056;178636055;178636054 | chr2:179500783;179500782;179500781 |
| N2AB | 12198 | 36817;36818;36819 | chr2:178636056;178636055;178636054 | chr2:179500783;179500782;179500781 |
| N2A | 11271 | 34036;34037;34038 | chr2:178636056;178636055;178636054 | chr2:179500783;179500782;179500781 |
| N2B | 4774 | 14545;14546;14547 | chr2:178636056;178636055;178636054 | chr2:179500783;179500782;179500781 |
| Novex-1 | 4899 | 14920;14921;14922 | chr2:178636056;178636055;178636054 | chr2:179500783;179500782;179500781 |
| Novex-2 | 4966 | 15121;15122;15123 | chr2:178636056;178636055;178636054 | chr2:179500783;179500782;179500781 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | 0.968 | N | 0.734 | 0.27 | 0.370240404367 | gnomAD-4.0.0 | 1.36883E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79932E-06 | 0 | 0 |
| I/N | None | None | 0.995 | D | 0.831 | 0.5 | 0.546780063783 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| I/V | rs1433829695  |
-1.537 | 0.026 | N | 0.25 | 0.147 | 0.263140351381 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| I/V | rs1433829695 |
-1.537 | 0.026 | N | 0.25 | 0.147 | 0.263140351381 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs1433829695 |
-1.537 | 0.026 | N | 0.25 | 0.147 | 0.263140351381 | gnomAD-4.0.0 | 3.71927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23893E-06 | 0 | 1.60143E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9763 | likely_pathogenic | 0.9816 | pathogenic | -2.766 | Highly Destabilizing | 0.851 | D | 0.695 | prob.delet. | None | None | None | None | N |
| I/C | 0.9816 | likely_pathogenic | 0.9843 | pathogenic | -2.195 | Highly Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| I/D | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -3.222 | Highly Destabilizing | 0.996 | D | 0.83 | deleterious | None | None | None | None | N |
| I/E | 0.9958 | likely_pathogenic | 0.9968 | pathogenic | -3.005 | Highly Destabilizing | 0.988 | D | 0.835 | deleterious | None | None | None | None | N |
| I/F | 0.7444 | likely_pathogenic | 0.8071 | pathogenic | -1.618 | Destabilizing | 0.968 | D | 0.707 | prob.delet. | N | 0.450790565 | None | None | N |
| I/G | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -3.301 | Highly Destabilizing | 0.988 | D | 0.829 | deleterious | None | None | None | None | N |
| I/H | 0.9941 | likely_pathogenic | 0.9958 | pathogenic | -2.707 | Highly Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| I/K | 0.9886 | likely_pathogenic | 0.9919 | pathogenic | -2.206 | Highly Destabilizing | 0.988 | D | 0.836 | deleterious | None | None | None | None | N |
| I/L | 0.4165 | ambiguous | 0.4663 | ambiguous | -1.213 | Destabilizing | 0.011 | N | 0.282 | neutral | N | 0.370722849 | None | None | N |
| I/M | 0.4357 | ambiguous | 0.4888 | ambiguous | -1.279 | Destabilizing | 0.968 | D | 0.734 | deleterious | N | 0.490319359 | None | None | N |
| I/N | 0.9857 | likely_pathogenic | 0.9888 | pathogenic | -2.545 | Highly Destabilizing | 0.995 | D | 0.831 | deleterious | D | 0.527698413 | None | None | N |
| I/P | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.713 | Destabilizing | 0.996 | D | 0.829 | deleterious | None | None | None | None | N |
| I/Q | 0.9916 | likely_pathogenic | 0.9935 | pathogenic | -2.427 | Highly Destabilizing | 0.996 | D | 0.811 | deleterious | None | None | None | None | N |
| I/R | 0.9814 | likely_pathogenic | 0.9864 | pathogenic | -1.848 | Destabilizing | 0.988 | D | 0.831 | deleterious | None | None | None | None | N |
| I/S | 0.9844 | likely_pathogenic | 0.9866 | pathogenic | -3.22 | Highly Destabilizing | 0.984 | D | 0.749 | deleterious | N | 0.491416884 | None | None | N |
| I/T | 0.9754 | likely_pathogenic | 0.9832 | pathogenic | -2.863 | Highly Destabilizing | 0.896 | D | 0.746 | deleterious | D | 0.526860262 | None | None | N |
| I/V | 0.1366 | likely_benign | 0.1569 | benign | -1.713 | Destabilizing | 0.026 | N | 0.25 | neutral | N | 0.375038473 | None | None | N |
| I/W | 0.9897 | likely_pathogenic | 0.9929 | pathogenic | -2.011 | Highly Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| I/Y | 0.9774 | likely_pathogenic | 0.9827 | pathogenic | -1.778 | Destabilizing | 0.988 | D | 0.741 | 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.