Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18268 | 55027;55028;55029 | chr2:178603885;178603884;178603883 | chr2:179468612;179468611;179468610 |
| N2AB | 16627 | 50104;50105;50106 | chr2:178603885;178603884;178603883 | chr2:179468612;179468611;179468610 |
| N2A | 15700 | 47323;47324;47325 | chr2:178603885;178603884;178603883 | chr2:179468612;179468611;179468610 |
| N2B | 9203 | 27832;27833;27834 | chr2:178603885;178603884;178603883 | chr2:179468612;179468611;179468610 |
| Novex-1 | 9328 | 28207;28208;28209 | chr2:178603885;178603884;178603883 | chr2:179468612;179468611;179468610 |
| Novex-2 | 9395 | 28408;28409;28410 | chr2:178603885;178603884;178603883 | chr2:179468612;179468611;179468610 |
| 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/H | rs776957882  |
0.601 | 1.0 | N | 0.863 | 0.327 | 0.277730125212 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.36E-05 | None | 0 | 0 | 0 |
| D/H | rs776957882 |
0.601 | 1.0 | N | 0.863 | 0.327 | 0.277730125212 | gnomAD-4.0.0 | 1.67442E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.52486E-05 | 0 |
| D/N | None | None | 1.0 | N | 0.757 | 0.278 | 0.206339911435 | 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 |
| D/N | None | None | 1.0 | N | 0.757 | 0.278 | 0.206339911435 | gnomAD-4.0.0 | 2.66966E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.52297E-06 | 1.42017E-05 | 0 |
| D/Y | rs776957882 |
None | 1.0 | N | 0.827 | 0.373 | 0.567643136482 | gnomAD-4.0.0 | 1.67442E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.8335E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7068 | likely_pathogenic | 0.5947 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.738 | deleterious | N | 0.446972915 | None | None | N |
| D/C | 0.9362 | likely_pathogenic | 0.898 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/E | 0.5321 | ambiguous | 0.3997 | ambiguous | -0.272 | Destabilizing | 0.999 | D | 0.567 | neutral | N | 0.467425545 | None | None | N |
| D/F | 0.8977 | likely_pathogenic | 0.8598 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/G | 0.8077 | likely_pathogenic | 0.6843 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.512312473 | None | None | N |
| D/H | 0.8021 | likely_pathogenic | 0.7267 | pathogenic | -0.039 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.456515035 | None | None | N |
| D/I | 0.796 | likely_pathogenic | 0.761 | pathogenic | 0.142 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/K | 0.8582 | likely_pathogenic | 0.821 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/L | 0.7688 | likely_pathogenic | 0.7282 | pathogenic | 0.142 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/M | 0.926 | likely_pathogenic | 0.8954 | pathogenic | 0.232 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/N | 0.3147 | likely_benign | 0.2489 | benign | 0.111 | Stabilizing | 1.0 | D | 0.757 | deleterious | N | 0.466713469 | None | None | N |
| D/P | 0.8996 | likely_pathogenic | 0.8455 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/Q | 0.8546 | likely_pathogenic | 0.7802 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/R | 0.8947 | likely_pathogenic | 0.8579 | pathogenic | 0.459 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/S | 0.5305 | ambiguous | 0.4063 | ambiguous | -0.008 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/T | 0.7743 | likely_pathogenic | 0.6835 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| D/V | 0.6827 | likely_pathogenic | 0.6172 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.781 | deleterious | N | 0.458121196 | None | None | N |
| D/W | 0.9784 | likely_pathogenic | 0.9708 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/Y | 0.6025 | likely_pathogenic | 0.5625 | ambiguous | -0.064 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.467528945 | 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.