Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22766 | 68521;68522;68523 | chr2:178578644;178578643;178578642 | chr2:179443371;179443370;179443369 |
| N2AB | 21125 | 63598;63599;63600 | chr2:178578644;178578643;178578642 | chr2:179443371;179443370;179443369 |
| N2A | 20198 | 60817;60818;60819 | chr2:178578644;178578643;178578642 | chr2:179443371;179443370;179443369 |
| N2B | 13701 | 41326;41327;41328 | chr2:178578644;178578643;178578642 | chr2:179443371;179443370;179443369 |
| Novex-1 | 13826 | 41701;41702;41703 | chr2:178578644;178578643;178578642 | chr2:179443371;179443370;179443369 |
| Novex-2 | 13893 | 41902;41903;41904 | chr2:178578644;178578643;178578642 | chr2:179443371;179443370;179443369 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs534340303  |
-0.47 | 0.767 | N | 0.326 | 0.083 | 0.104622674875 | gnomAD-2.1.1 | 1.22115E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.77083E-03 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs534340303 |
-0.47 | 0.767 | N | 0.326 | 0.083 | 0.104622674875 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.74554E-03 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs534340303 |
-0.47 | 0.767 | N | 0.326 | 0.083 | 0.104622674875 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| D/E | rs534340303 |
-0.47 | 0.767 | N | 0.326 | 0.083 | 0.104622674875 | gnomAD-4.0.0 | 4.03215E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.3008E-03 | None | 0 | 0 | 0 | 0 | 1.12194E-04 |
| D/H | rs759955348 |
0.319 | 1.0 | N | 0.791 | 0.409 | 0.253205268125 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| D/H | rs759955348 |
0.319 | 1.0 | N | 0.791 | 0.409 | 0.253205268125 | gnomAD-4.0.0 | 1.5953E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43885E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1865 | likely_benign | 0.2194 | benign | 0.02 | Stabilizing | 0.999 | D | 0.791 | deleterious | N | 0.3337732 | None | None | N |
| D/C | 0.7205 | likely_pathogenic | 0.7511 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/E | 0.1777 | likely_benign | 0.1984 | benign | -0.633 | Destabilizing | 0.767 | D | 0.326 | neutral | N | 0.321596124 | None | None | N |
| D/F | 0.6971 | likely_pathogenic | 0.7357 | pathogenic | 0.592 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/G | 0.3397 | likely_benign | 0.3865 | ambiguous | -0.318 | Destabilizing | 0.998 | D | 0.765 | deleterious | N | 0.414044925 | None | None | N |
| D/H | 0.4319 | ambiguous | 0.4803 | ambiguous | 0.529 | Stabilizing | 1.0 | D | 0.791 | deleterious | N | 0.446714704 | None | None | N |
| D/I | 0.4099 | ambiguous | 0.4475 | ambiguous | 0.903 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/K | 0.54 | ambiguous | 0.633 | pathogenic | -0.154 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| D/L | 0.4646 | ambiguous | 0.5075 | ambiguous | 0.903 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/M | 0.6826 | likely_pathogenic | 0.7052 | pathogenic | 0.901 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/N | 0.1487 | likely_benign | 0.1591 | benign | -0.661 | Destabilizing | 0.999 | D | 0.651 | neutral | N | 0.442674321 | None | None | N |
| D/P | 0.4492 | ambiguous | 0.4969 | ambiguous | 0.634 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/Q | 0.4772 | ambiguous | 0.5451 | ambiguous | -0.473 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| D/R | 0.6078 | likely_pathogenic | 0.6802 | pathogenic | 0.14 | Stabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| D/S | 0.1784 | likely_benign | 0.1974 | benign | -0.844 | Destabilizing | 0.997 | D | 0.636 | neutral | None | None | None | None | N |
| D/T | 0.3462 | ambiguous | 0.3863 | ambiguous | -0.553 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/V | 0.2633 | likely_benign | 0.2961 | benign | 0.634 | Stabilizing | 0.999 | D | 0.832 | deleterious | N | 0.401385059 | None | None | N |
| D/W | 0.9398 | likely_pathogenic | 0.951 | pathogenic | 0.71 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| D/Y | 0.3405 | ambiguous | 0.3888 | ambiguous | 0.827 | Stabilizing | 1.0 | D | 0.834 | deleterious | N | 0.458105134 | 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.