Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16342 | 49249;49250;49251 | chr2:178614490;178614489;178614488 | chr2:179479217;179479216;179479215 |
| N2AB | 14701 | 44326;44327;44328 | chr2:178614490;178614489;178614488 | chr2:179479217;179479216;179479215 |
| N2A | 13774 | 41545;41546;41547 | chr2:178614490;178614489;178614488 | chr2:179479217;179479216;179479215 |
| N2B | 7277 | 22054;22055;22056 | chr2:178614490;178614489;178614488 | chr2:179479217;179479216;179479215 |
| Novex-1 | 7402 | 22429;22430;22431 | chr2:178614490;178614489;178614488 | chr2:179479217;179479216;179479215 |
| Novex-2 | 7469 | 22630;22631;22632 | chr2:178614490;178614489;178614488 | chr2:179479217;179479216;179479215 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1429247714  |
-1.063 | 1.0 | N | 0.617 | 0.408 | 0.518147779662 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | I | None | 6.48E-05 | 0 | None | 0 | 5.65E-05 | None | 6.7E-05 | None | 0 | 0 | 0 |
| A/S | rs1429247714 |
-1.063 | 1.0 | N | 0.617 | 0.408 | 0.518147779662 | gnomAD-4.0.0 | 3.43153E-06 | None | None | None | None | I | None | 3.0012E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.68285E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8339 | likely_pathogenic | 0.8486 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| A/D | 0.9781 | likely_pathogenic | 0.9865 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.637217982 | None | None | I |
| A/E | 0.9556 | likely_pathogenic | 0.9706 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| A/F | 0.9399 | likely_pathogenic | 0.9568 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | I |
| A/G | 0.4787 | ambiguous | 0.5849 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.594898944 | None | None | I |
| A/H | 0.9743 | likely_pathogenic | 0.9785 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| A/I | 0.8899 | likely_pathogenic | 0.9209 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| A/K | 0.9759 | likely_pathogenic | 0.9847 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| A/L | 0.812 | likely_pathogenic | 0.8451 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| A/M | 0.7867 | likely_pathogenic | 0.8393 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| A/N | 0.9538 | likely_pathogenic | 0.9638 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | I |
| A/P | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.759574838 | None | None | I |
| A/Q | 0.9221 | likely_pathogenic | 0.9358 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| A/R | 0.9529 | likely_pathogenic | 0.9646 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| A/S | 0.3583 | ambiguous | 0.3991 | ambiguous | -0.792 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.50944618 | None | None | I |
| A/T | 0.4667 | ambiguous | 0.556 | ambiguous | -0.798 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.542818331 | None | None | I |
| A/V | 0.6097 | likely_pathogenic | 0.7051 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | D | 0.537312893 | None | None | I |
| A/W | 0.9952 | likely_pathogenic | 0.9961 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| A/Y | 0.9751 | likely_pathogenic | 0.9791 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | I |
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.