Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5755 | 17488;17489;17490 | chr2:178731503;178731502;178731501 | chr2:179596230;179596229;179596228 |
| N2AB | 5438 | 16537;16538;16539 | chr2:178731503;178731502;178731501 | chr2:179596230;179596229;179596228 |
| N2A | 4511 | 13756;13757;13758 | chr2:178731503;178731502;178731501 | chr2:179596230;179596229;179596228 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs771267628  |
-0.55 | 0.953 | D | 0.687 | 0.791 | 0.854352048779 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/C | rs771267628 |
-0.55 | 0.953 | D | 0.687 | 0.791 | 0.854352048779 | gnomAD-4.0.0 | 5.47465E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19632E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.76 | 0.827 | 0.836006858035 | gnomAD-4.0.0 | 4.79032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29678E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8178 | likely_pathogenic | 0.8107 | pathogenic | -0.178 | Destabilizing | 0.999 | D | 0.666 | neutral | D | 0.572983703 | None | None | I |
| G/C | 0.9806 | likely_pathogenic | 0.9796 | pathogenic | -0.801 | Destabilizing | 0.953 | D | 0.687 | prob.neutral | D | 0.616559219 | None | None | I |
| G/D | 0.9835 | likely_pathogenic | 0.9833 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.615348393 | None | None | I |
| G/E | 0.9892 | likely_pathogenic | 0.9901 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/F | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/H | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| G/I | 0.9865 | likely_pathogenic | 0.9878 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/K | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/L | 0.9936 | likely_pathogenic | 0.9934 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/M | 0.9961 | likely_pathogenic | 0.9962 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/N | 0.9924 | likely_pathogenic | 0.992 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| G/Q | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/R | 0.9957 | likely_pathogenic | 0.9957 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.600136249 | None | None | I |
| G/S | 0.8937 | likely_pathogenic | 0.8809 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.564473974 | None | None | I |
| G/T | 0.9759 | likely_pathogenic | 0.9734 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/V | 0.9622 | likely_pathogenic | 0.965 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.61615561 | None | None | I |
| G/W | 0.9939 | likely_pathogenic | 0.9942 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| G/Y | 0.9936 | likely_pathogenic | 0.9933 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.758 | 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.