Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35353 | 106282;106283;106284 | chr2:178530558;178530557;178530556 | chr2:179395285;179395284;179395283 |
| N2AB | 33712 | 101359;101360;101361 | chr2:178530558;178530557;178530556 | chr2:179395285;179395284;179395283 |
| N2A | 32785 | 98578;98579;98580 | chr2:178530558;178530557;178530556 | chr2:179395285;179395284;179395283 |
| N2B | 26288 | 79087;79088;79089 | chr2:178530558;178530557;178530556 | chr2:179395285;179395284;179395283 |
| Novex-1 | 26413 | 79462;79463;79464 | chr2:178530558;178530557;178530556 | chr2:179395285;179395284;179395283 |
| Novex-2 | 26480 | 79663;79664;79665 | chr2:178530558;178530557;178530556 | chr2:179395285;179395284;179395283 |
| 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/G | None | None | 1.0 | D | 0.776 | 0.81 | 0.59553206065 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/H | rs780037060  |
0.968 | 1.0 | D | 0.831 | 0.749 | 0.575311710502 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/H | rs780037060 |
0.968 | 1.0 | D | 0.831 | 0.749 | 0.575311710502 | gnomAD-4.0.0 | 1.59091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| D/N | rs780037060 |
None | 1.0 | D | 0.784 | 0.668 | 0.543428762037 | gnomAD-4.0.0 | 1.59091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85753E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9069 | likely_pathogenic | 0.8548 | pathogenic | 1.094 | Stabilizing | 1.0 | D | 0.84 | deleterious | D | 0.596278736 | None | None | N |
| D/C | 0.9708 | likely_pathogenic | 0.9542 | pathogenic | 0.78 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/E | 0.8356 | likely_pathogenic | 0.7856 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.586 | neutral | D | 0.580673702 | None | None | N |
| D/F | 0.9836 | likely_pathogenic | 0.9775 | pathogenic | 1.696 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/G | 0.9262 | likely_pathogenic | 0.8888 | pathogenic | 0.619 | Stabilizing | 1.0 | D | 0.776 | deleterious | D | 0.641752648 | None | None | N |
| D/H | 0.8861 | likely_pathogenic | 0.8567 | pathogenic | 1.29 | Stabilizing | 1.0 | D | 0.831 | deleterious | D | 0.568126093 | None | None | N |
| D/I | 0.9766 | likely_pathogenic | 0.9624 | pathogenic | 2.363 | Highly Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/K | 0.9732 | likely_pathogenic | 0.9618 | pathogenic | 0.778 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/L | 0.97 | likely_pathogenic | 0.9576 | pathogenic | 2.363 | Highly Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/M | 0.9902 | likely_pathogenic | 0.9863 | pathogenic | 2.596 | Highly Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/N | 0.6811 | likely_pathogenic | 0.5995 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.598378937 | None | None | N |
| D/P | 0.994 | likely_pathogenic | 0.9917 | pathogenic | 1.972 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/Q | 0.9593 | likely_pathogenic | 0.9424 | pathogenic | 0.32 | Stabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| D/R | 0.9771 | likely_pathogenic | 0.9681 | pathogenic | 0.584 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/S | 0.7793 | likely_pathogenic | 0.6962 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/T | 0.9498 | likely_pathogenic | 0.9174 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| D/V | 0.9365 | likely_pathogenic | 0.9037 | pathogenic | 1.972 | Stabilizing | 1.0 | D | 0.844 | deleterious | D | 0.642156256 | None | None | N |
| D/W | 0.9969 | likely_pathogenic | 0.9955 | pathogenic | 1.599 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/Y | 0.892 | likely_pathogenic | 0.8533 | pathogenic | 1.967 | Stabilizing | 1.0 | D | 0.851 | deleterious | D | 0.61641634 | 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.