Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2193 | 6802;6803;6804 | chr2:178775134;178775133;178775132 | chr2:179639861;179639860;179639859 |
| N2AB | 2193 | 6802;6803;6804 | chr2:178775134;178775133;178775132 | chr2:179639861;179639860;179639859 |
| N2A | 2193 | 6802;6803;6804 | chr2:178775134;178775133;178775132 | chr2:179639861;179639860;179639859 |
| N2B | 2147 | 6664;6665;6666 | chr2:178775134;178775133;178775132 | chr2:179639861;179639860;179639859 |
| Novex-1 | 2147 | 6664;6665;6666 | chr2:178775134;178775133;178775132 | chr2:179639861;179639860;179639859 |
| Novex-2 | 2147 | 6664;6665;6666 | chr2:178775134;178775133;178775132 | chr2:179639861;179639860;179639859 |
| Novex-3 | 2193 | 6802;6803;6804 | chr2:178775134;178775133;178775132 | chr2:179639861;179639860;179639859 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs147148170  |
None | 0.997 | N | 0.614 | 0.358 | None | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| T/A | rs147148170 |
None | 0.997 | N | 0.614 | 0.358 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs147148170 |
None | 0.997 | N | 0.614 | 0.358 | None | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 0 | 0 |
| T/I | None | None | 0.999 | N | 0.787 | 0.44 | 0.286848849266 | gnomAD-4.0.0 | 1.36826E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79866E-06 | 0 | 0 |
| T/N | rs1574640739 |
None | 0.999 | N | 0.741 | 0.383 | 0.269111216191 | gnomAD-4.0.0 | 2.05239E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69799E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2316 | likely_benign | 0.2147 | benign | -0.955 | Destabilizing | 0.997 | D | 0.614 | neutral | N | 0.410604541 | None | None | N |
| T/C | 0.8075 | likely_pathogenic | 0.7817 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/D | 0.9133 | likely_pathogenic | 0.8905 | pathogenic | -0.059 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| T/E | 0.8851 | likely_pathogenic | 0.8581 | pathogenic | -0.007 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| T/F | 0.7283 | likely_pathogenic | 0.6978 | pathogenic | -0.924 | Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | N |
| T/G | 0.7157 | likely_pathogenic | 0.6787 | pathogenic | -1.257 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | N |
| T/H | 0.7154 | likely_pathogenic | 0.674 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/I | 0.4355 | ambiguous | 0.4139 | ambiguous | -0.226 | Destabilizing | 0.999 | D | 0.787 | deleterious | N | 0.319751642 | None | None | N |
| T/K | 0.7613 | likely_pathogenic | 0.7222 | pathogenic | -0.598 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| T/L | 0.3109 | likely_benign | 0.2824 | benign | -0.226 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/M | 0.2221 | likely_benign | 0.2053 | benign | -0.068 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/N | 0.4754 | ambiguous | 0.4109 | ambiguous | -0.67 | Destabilizing | 0.999 | D | 0.741 | deleterious | N | 0.411780398 | None | None | N |
| T/P | 0.7897 | likely_pathogenic | 0.7515 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.781 | deleterious | N | 0.49695543 | None | None | N |
| T/Q | 0.6986 | likely_pathogenic | 0.6547 | pathogenic | -0.69 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| T/R | 0.6634 | likely_pathogenic | 0.6197 | pathogenic | -0.455 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| T/S | 0.309 | likely_benign | 0.2882 | benign | -1.012 | Destabilizing | 0.997 | D | 0.597 | neutral | N | 0.3779626 | None | None | N |
| T/V | 0.2939 | likely_benign | 0.276 | benign | -0.436 | Destabilizing | 0.998 | D | 0.618 | neutral | None | None | None | None | N |
| T/W | 0.9423 | likely_pathogenic | 0.9293 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/Y | 0.7492 | likely_pathogenic | 0.7137 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.796 | 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.