Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30929 | 93010;93011;93012 | chr2:178548841;178548840;178548839 | chr2:179413568;179413567;179413566 |
| N2AB | 29288 | 88087;88088;88089 | chr2:178548841;178548840;178548839 | chr2:179413568;179413567;179413566 |
| N2A | 28361 | 85306;85307;85308 | chr2:178548841;178548840;178548839 | chr2:179413568;179413567;179413566 |
| N2B | 21864 | 65815;65816;65817 | chr2:178548841;178548840;178548839 | chr2:179413568;179413567;179413566 |
| Novex-1 | 21989 | 66190;66191;66192 | chr2:178548841;178548840;178548839 | chr2:179413568;179413567;179413566 |
| Novex-2 | 22056 | 66391;66392;66393 | chr2:178548841;178548840;178548839 | chr2:179413568;179413567;179413566 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1192451781  |
-0.492 | 1.0 | D | 0.632 | 0.296 | 0.344945010812 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1192451781 |
-0.492 | 1.0 | D | 0.632 | 0.296 | 0.344945010812 | gnomAD-4.0.0 | 6.37127E-06 | None | None | None | None | N | None | 0 | 6.85997E-05 | None | 0 | 2.77469E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6617 | likely_pathogenic | 0.6195 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| A/D | 0.6066 | likely_pathogenic | 0.5029 | ambiguous | -0.642 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/E | 0.566 | likely_pathogenic | 0.4709 | ambiguous | -0.787 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.487717018 | None | None | N |
| A/F | 0.638 | likely_pathogenic | 0.5684 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/G | 0.229 | likely_benign | 0.1887 | benign | -0.31 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.51021997 | None | None | N |
| A/H | 0.7366 | likely_pathogenic | 0.6606 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/I | 0.4132 | ambiguous | 0.3533 | ambiguous | -0.484 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| A/K | 0.7347 | likely_pathogenic | 0.6512 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| A/L | 0.3305 | likely_benign | 0.2799 | benign | -0.484 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| A/M | 0.3854 | ambiguous | 0.3263 | benign | -0.664 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| A/N | 0.451 | ambiguous | 0.3634 | ambiguous | -0.351 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/P | 0.3028 | likely_benign | 0.2392 | benign | -0.401 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.518551452 | None | None | N |
| A/Q | 0.5857 | likely_pathogenic | 0.5042 | ambiguous | -0.606 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| A/R | 0.6707 | likely_pathogenic | 0.598 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| A/S | 0.1395 | likely_benign | 0.1171 | benign | -0.522 | Destabilizing | 1.0 | D | 0.632 | neutral | N | 0.500907053 | None | None | N |
| A/T | 0.153 | likely_benign | 0.1094 | benign | -0.597 | Destabilizing | 1.0 | D | 0.632 | neutral | D | 0.528632372 | None | None | N |
| A/V | 0.209 | likely_benign | 0.1682 | benign | -0.401 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.494269083 | None | None | N |
| A/W | 0.8883 | likely_pathogenic | 0.8663 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/Y | 0.7445 | likely_pathogenic | 0.6764 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | 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.