Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22328 | 67207;67208;67209 | chr2:178580397;178580396;178580395 | chr2:179445124;179445123;179445122 |
| N2AB | 20687 | 62284;62285;62286 | chr2:178580397;178580396;178580395 | chr2:179445124;179445123;179445122 |
| N2A | 19760 | 59503;59504;59505 | chr2:178580397;178580396;178580395 | chr2:179445124;179445123;179445122 |
| N2B | 13263 | 40012;40013;40014 | chr2:178580397;178580396;178580395 | chr2:179445124;179445123;179445122 |
| Novex-1 | 13388 | 40387;40388;40389 | chr2:178580397;178580396;178580395 | chr2:179445124;179445123;179445122 |
| Novex-2 | 13455 | 40588;40589;40590 | chr2:178580397;178580396;178580395 | chr2:179445124;179445123;179445122 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | D | 0.787 | 0.793 | 0.680912940599 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 0 |
| D/V | rs749871897  |
0.762 | 1.0 | D | 0.848 | 0.911 | 0.852438954655 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs749871897 |
0.762 | 1.0 | D | 0.848 | 0.911 | 0.852438954655 | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | N | None | 5.66572E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9932 | likely_pathogenic | 0.9943 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.841 | deleterious | D | 0.63690755 | None | None | N |
| D/C | 0.9965 | likely_pathogenic | 0.9972 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/E | 0.9699 | likely_pathogenic | 0.9712 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.619677364 | None | None | N |
| D/F | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | 0.782 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/G | 0.9943 | likely_pathogenic | 0.9953 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.637109355 | None | None | N |
| D/H | 0.9819 | likely_pathogenic | 0.9845 | pathogenic | 0.315 | Stabilizing | 1.0 | D | 0.815 | deleterious | D | 0.589020911 | None | None | N |
| D/I | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | 1.364 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/K | 0.9975 | likely_pathogenic | 0.9979 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/L | 0.9961 | likely_pathogenic | 0.9969 | pathogenic | 1.364 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/M | 0.999 | likely_pathogenic | 0.9992 | pathogenic | 1.772 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/N | 0.9719 | likely_pathogenic | 0.9735 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.587002869 | None | None | N |
| D/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | 0.993 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/Q | 0.996 | likely_pathogenic | 0.9962 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/R | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/S | 0.9835 | likely_pathogenic | 0.9856 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/T | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/V | 0.9946 | likely_pathogenic | 0.9958 | pathogenic | 0.993 | Stabilizing | 1.0 | D | 0.848 | deleterious | D | 0.637512963 | None | None | N |
| D/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 0.803 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/Y | 0.9888 | likely_pathogenic | 0.9904 | pathogenic | 0.995 | Stabilizing | 1.0 | D | 0.858 | deleterious | D | 0.637311159 | 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.