Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23017 | 69274;69275;69276 | chr2:178577286;178577285;178577284 | chr2:179442013;179442012;179442011 |
| N2AB | 21376 | 64351;64352;64353 | chr2:178577286;178577285;178577284 | chr2:179442013;179442012;179442011 |
| N2A | 20449 | 61570;61571;61572 | chr2:178577286;178577285;178577284 | chr2:179442013;179442012;179442011 |
| N2B | 13952 | 42079;42080;42081 | chr2:178577286;178577285;178577284 | chr2:179442013;179442012;179442011 |
| Novex-1 | 14077 | 42454;42455;42456 | chr2:178577286;178577285;178577284 | chr2:179442013;179442012;179442011 |
| Novex-2 | 14144 | 42655;42656;42657 | chr2:178577286;178577285;178577284 | chr2:179442013;179442012;179442011 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1393720998  |
-0.997 | 0.999 | N | 0.721 | 0.516 | 0.481988042695 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.58425E-04 | None | 0 | None | 0 | 0 | 0 |
| E/A | rs1393720998 |
-0.997 | 0.999 | N | 0.721 | 0.516 | 0.481988042695 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.83204E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/A | rs1393720998 |
-0.997 | 0.999 | N | 0.721 | 0.516 | 0.481988042695 | gnomAD-4.0.0 | 5.57988E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.78979E-04 | None | 0 | 0 | 0 | 0 | 1.6019E-05 |
| E/K | rs1433111553 |
-0.573 | 0.999 | N | 0.638 | 0.445 | 0.391470661076 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs1433111553 |
-0.573 | 0.999 | N | 0.638 | 0.445 | 0.391470661076 | gnomAD-4.0.0 | 1.59233E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1959 | likely_benign | 0.1767 | benign | -0.905 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | N | 0.518359451 | None | None | N |
| E/C | 0.8408 | likely_pathogenic | 0.7851 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| E/D | 0.1237 | likely_benign | 0.1126 | benign | -1.229 | Destabilizing | 0.999 | D | 0.547 | neutral | N | 0.51331899 | None | None | N |
| E/F | 0.7225 | likely_pathogenic | 0.6514 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| E/G | 0.2953 | likely_benign | 0.2571 | benign | -1.29 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.524854262 | None | None | N |
| E/H | 0.4849 | ambiguous | 0.4233 | ambiguous | -0.805 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/I | 0.2566 | likely_benign | 0.2222 | benign | 0.154 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| E/K | 0.1919 | likely_benign | 0.1694 | benign | -0.951 | Destabilizing | 0.999 | D | 0.638 | neutral | N | 0.457097561 | None | None | N |
| E/L | 0.3741 | ambiguous | 0.3255 | benign | 0.154 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| E/M | 0.412 | ambiguous | 0.3555 | ambiguous | 0.69 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/N | 0.2304 | likely_benign | 0.2015 | benign | -1.347 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| E/P | 0.6679 | likely_pathogenic | 0.6139 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| E/Q | 0.162 | likely_benign | 0.1517 | benign | -1.173 | Destabilizing | 1.0 | D | 0.642 | neutral | N | 0.511990839 | None | None | N |
| E/R | 0.3374 | likely_benign | 0.2996 | benign | -0.705 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| E/S | 0.223 | likely_benign | 0.1992 | benign | -1.697 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| E/T | 0.1988 | likely_benign | 0.1755 | benign | -1.381 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/V | 0.1795 | likely_benign | 0.1587 | benign | -0.177 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.495810665 | None | None | N |
| E/W | 0.9013 | likely_pathogenic | 0.8587 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| E/Y | 0.5988 | likely_pathogenic | 0.532 | ambiguous | -0.174 | Destabilizing | 1.0 | D | 0.814 | 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.