Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26288 | 79087;79088;79089 | chr2:178567270;178567269;178567268 | chr2:179431997;179431996;179431995 |
| N2AB | 24647 | 74164;74165;74166 | chr2:178567270;178567269;178567268 | chr2:179431997;179431996;179431995 |
| N2A | 23720 | 71383;71384;71385 | chr2:178567270;178567269;178567268 | chr2:179431997;179431996;179431995 |
| N2B | 17223 | 51892;51893;51894 | chr2:178567270;178567269;178567268 | chr2:179431997;179431996;179431995 |
| Novex-1 | 17348 | 52267;52268;52269 | chr2:178567270;178567269;178567268 | chr2:179431997;179431996;179431995 |
| Novex-2 | 17415 | 52468;52469;52470 | chr2:178567270;178567269;178567268 | chr2:179431997;179431996;179431995 |
| 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/R | None | None | 1.0 | N | 0.861 | 0.48 | 0.630011229279 | gnomAD-4.0.0 | 8.04847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.31829E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5671 | likely_pathogenic | 0.5306 | ambiguous | -0.852 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.513146702 | None | None | N |
| G/C | 0.8547 | likely_pathogenic | 0.8246 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/D | 0.9664 | likely_pathogenic | 0.9539 | pathogenic | -2.435 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/E | 0.9659 | likely_pathogenic | 0.9601 | pathogenic | -2.438 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.518716109 | None | None | N |
| G/F | 0.9733 | likely_pathogenic | 0.9695 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/H | 0.9865 | likely_pathogenic | 0.9812 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/I | 0.9599 | likely_pathogenic | 0.9614 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/K | 0.9895 | likely_pathogenic | 0.9879 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/L | 0.9372 | likely_pathogenic | 0.9287 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/M | 0.968 | likely_pathogenic | 0.9624 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/N | 0.9614 | likely_pathogenic | 0.9468 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/P | 0.9966 | likely_pathogenic | 0.9964 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.97 | likely_pathogenic | 0.9622 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/R | 0.9742 | likely_pathogenic | 0.971 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.50525989 | None | None | N |
| G/S | 0.4821 | ambiguous | 0.4178 | ambiguous | -1.421 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/T | 0.8761 | likely_pathogenic | 0.8562 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/V | 0.926 | likely_pathogenic | 0.9264 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.532771894 | None | None | N |
| G/W | 0.9706 | likely_pathogenic | 0.9645 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/Y | 0.9769 | likely_pathogenic | 0.9715 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.855 | 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.