Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21434 | 64525;64526;64527 | chr2:178586601;178586600;178586599 | chr2:179451328;179451327;179451326 |
| N2AB | 19793 | 59602;59603;59604 | chr2:178586601;178586600;178586599 | chr2:179451328;179451327;179451326 |
| N2A | 18866 | 56821;56822;56823 | chr2:178586601;178586600;178586599 | chr2:179451328;179451327;179451326 |
| N2B | 12369 | 37330;37331;37332 | chr2:178586601;178586600;178586599 | chr2:179451328;179451327;179451326 |
| Novex-1 | 12494 | 37705;37706;37707 | chr2:178586601;178586600;178586599 | chr2:179451328;179451327;179451326 |
| Novex-2 | 12561 | 37906;37907;37908 | chr2:178586601;178586600;178586599 | chr2:179451328;179451327;179451326 |
| 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/E | None | None | 0.942 | N | 0.725 | 0.347 | 0.444706120422 | gnomAD-4.0.0 | 1.36892E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79948E-06 | 0 | 0 |
| G/R | rs1397887723  |
-0.73 | 0.071 | N | 0.598 | 0.456 | 0.377097596864 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/R | rs1397887723 |
-0.73 | 0.071 | N | 0.598 | 0.456 | 0.377097596864 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1397887723 |
-0.73 | 0.071 | N | 0.598 | 0.456 | 0.377097596864 | gnomAD-4.0.0 | 2.56431E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79028E-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 | 0.5083 | ambiguous | 0.4614 | ambiguous | -0.663 | Destabilizing | 0.032 | N | 0.377 | neutral | D | 0.52789608 | None | None | N |
| G/C | 0.575 | likely_pathogenic | 0.5082 | ambiguous | -0.918 | Destabilizing | 0.998 | D | 0.845 | deleterious | None | None | None | None | N |
| G/D | 0.3768 | ambiguous | 0.3287 | benign | -1.214 | Destabilizing | 0.915 | D | 0.684 | prob.neutral | None | None | None | None | N |
| G/E | 0.5192 | ambiguous | 0.4452 | ambiguous | -1.351 | Destabilizing | 0.942 | D | 0.725 | prob.delet. | N | 0.488394446 | None | None | N |
| G/F | 0.8956 | likely_pathogenic | 0.865 | pathogenic | -1.195 | Destabilizing | 0.998 | D | 0.827 | deleterious | None | None | None | None | N |
| G/H | 0.6669 | likely_pathogenic | 0.5891 | pathogenic | -1.037 | Destabilizing | 0.994 | D | 0.804 | deleterious | None | None | None | None | N |
| G/I | 0.9002 | likely_pathogenic | 0.8714 | pathogenic | -0.593 | Destabilizing | 0.956 | D | 0.815 | deleterious | None | None | None | None | N |
| G/K | 0.7428 | likely_pathogenic | 0.6227 | pathogenic | -1.337 | Destabilizing | 0.915 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/L | 0.8274 | likely_pathogenic | 0.7871 | pathogenic | -0.593 | Destabilizing | 0.956 | D | 0.784 | deleterious | None | None | None | None | N |
| G/M | 0.8415 | likely_pathogenic | 0.7919 | pathogenic | -0.454 | Destabilizing | 0.998 | D | 0.827 | deleterious | None | None | None | None | N |
| G/N | 0.3304 | likely_benign | 0.2988 | benign | -0.886 | Destabilizing | 0.16 | N | 0.415 | neutral | None | None | None | None | N |
| G/P | 0.9921 | likely_pathogenic | 0.99 | pathogenic | -0.579 | Destabilizing | 0.978 | D | 0.795 | deleterious | None | None | None | None | N |
| G/Q | 0.5983 | likely_pathogenic | 0.5059 | ambiguous | -1.195 | Destabilizing | 0.956 | D | 0.799 | deleterious | None | None | None | None | N |
| G/R | 0.6853 | likely_pathogenic | 0.5692 | pathogenic | -0.802 | Destabilizing | 0.071 | N | 0.598 | neutral | N | 0.518615475 | None | None | N |
| G/S | 0.2726 | likely_benign | 0.2512 | benign | -1.027 | Destabilizing | 0.754 | D | 0.611 | neutral | None | None | None | None | N |
| G/T | 0.5816 | likely_pathogenic | 0.5333 | ambiguous | -1.106 | Destabilizing | 0.956 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/V | 0.8096 | likely_pathogenic | 0.7718 | pathogenic | -0.579 | Destabilizing | 0.89 | D | 0.793 | deleterious | N | 0.519375943 | None | None | N |
| G/W | 0.7631 | likely_pathogenic | 0.6989 | pathogenic | -1.397 | Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Y | 0.7545 | likely_pathogenic | 0.6953 | pathogenic | -1.074 | Destabilizing | 0.998 | D | 0.828 | 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.