Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25536 | 76831;76832;76833 | chr2:178569526;178569525;178569524 | chr2:179434253;179434252;179434251 |
| N2AB | 23895 | 71908;71909;71910 | chr2:178569526;178569525;178569524 | chr2:179434253;179434252;179434251 |
| N2A | 22968 | 69127;69128;69129 | chr2:178569526;178569525;178569524 | chr2:179434253;179434252;179434251 |
| N2B | 16471 | 49636;49637;49638 | chr2:178569526;178569525;178569524 | chr2:179434253;179434252;179434251 |
| Novex-1 | 16596 | 50011;50012;50013 | chr2:178569526;178569525;178569524 | chr2:179434253;179434252;179434251 |
| Novex-2 | 16663 | 50212;50213;50214 | chr2:178569526;178569525;178569524 | chr2:179434253;179434252;179434251 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs764082866  |
-0.537 | 1.0 | D | 0.709 | 0.871 | 0.90257942251 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/C | rs764082866 |
-0.537 | 1.0 | D | 0.709 | 0.871 | 0.90257942251 | gnomAD-4.0.0 | 1.59382E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.862E-06 | 0 | 0 |
| G/D | rs1021201663 |
None | 1.0 | D | 0.789 | 0.875 | 0.666654704183 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1021201663 |
None | 1.0 | D | 0.789 | 0.875 | 0.666654704183 | gnomAD-4.0.0 | 6.57895E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47115E-05 | 0 | 0 |
| G/V | rs1021201663 |
None | 1.0 | D | 0.761 | 0.856 | 0.932924188304 | gnomAD-4.0.0 | 1.59386E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02957E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7731 | likely_pathogenic | 0.8267 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.579252149 | None | None | I |
| G/C | 0.9788 | likely_pathogenic | 0.9834 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.648365776 | None | None | I |
| G/D | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.64715495 | None | None | I |
| G/E | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/F | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/H | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/I | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/K | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/L | 0.9967 | likely_pathogenic | 0.9972 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/M | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/N | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/Q | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/R | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.647962167 | None | None | I |
| G/S | 0.9314 | likely_pathogenic | 0.9523 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.602084647 | None | None | I |
| G/T | 0.9923 | likely_pathogenic | 0.9939 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/V | 0.9908 | likely_pathogenic | 0.993 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.647962167 | None | None | I |
| G/W | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
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.