Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7768 | 23527;23528;23529 | chr2:178720460;178720459;178720458 | chr2:179585187;179585186;179585185 |
| N2AB | 7451 | 22576;22577;22578 | chr2:178720460;178720459;178720458 | chr2:179585187;179585186;179585185 |
| N2A | 6524 | 19795;19796;19797 | chr2:178720460;178720459;178720458 | chr2:179585187;179585186;179585185 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/N | rs72648973  |
-0.104 | 1.0 | D | 0.783 | 0.593 | None | gnomAD-2.1.1 | 7.71252E-04 | None | None | None | None | N | None | 3.30688E-04 | 4.24352E-04 | None | 9.67492E-04 | 0 | None | 0 | None | 7.99E-05 | 1.38342E-03 | 5.62114E-04 |
| D/N | rs72648973 |
-0.104 | 1.0 | D | 0.783 | 0.593 | None | gnomAD-3.1.2 | 8.08604E-04 | None | None | None | None | N | None | 3.13737E-04 | 5.2404E-04 | 0 | 1.1534E-03 | 0 | None | 2.82539E-04 | 0 | 1.36753E-03 | 2.07555E-04 | 4.78011E-04 |
| D/N | rs72648973 |
-0.104 | 1.0 | D | 0.783 | 0.593 | None | gnomAD-4.0.0 | 1.27476E-03 | None | None | None | None | N | None | 2.53293E-04 | 4.83317E-04 | None | 8.4488E-04 | 0 | None | 1.24973E-04 | 0 | 1.62927E-03 | 3.29468E-05 | 8.16366E-04 |
| D/Y | None | None | 1.0 | D | 0.857 | 0.746 | 0.884366441292 | gnomAD-4.0.0 | 6.84272E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99549E-07 | 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 | 0.9443 | likely_pathogenic | 0.961 | pathogenic | 1.296 | Stabilizing | 1.0 | D | 0.851 | deleterious | D | 0.631335599 | None | None | N |
| D/C | 0.9811 | likely_pathogenic | 0.9857 | pathogenic | 1.113 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/E | 0.8807 | likely_pathogenic | 0.9017 | pathogenic | -0.092 | Destabilizing | 1.0 | D | 0.577 | neutral | D | 0.597853886 | None | None | N |
| D/F | 0.9947 | likely_pathogenic | 0.9954 | pathogenic | 1.851 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/G | 0.9648 | likely_pathogenic | 0.9758 | pathogenic | 0.803 | Stabilizing | 1.0 | D | 0.785 | deleterious | D | 0.652664386 | None | None | N |
| D/H | 0.9409 | likely_pathogenic | 0.9514 | pathogenic | 1.493 | Stabilizing | 1.0 | D | 0.838 | deleterious | D | 0.599468321 | None | None | N |
| D/I | 0.9924 | likely_pathogenic | 0.9944 | pathogenic | 2.616 | Highly Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| D/K | 0.9929 | likely_pathogenic | 0.9947 | pathogenic | 1.111 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/L | 0.9896 | likely_pathogenic | 0.9917 | pathogenic | 2.616 | Highly Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/M | 0.9943 | likely_pathogenic | 0.9952 | pathogenic | 2.868 | Highly Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/N | 0.8051 | likely_pathogenic | 0.8351 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.783 | deleterious | D | 0.618809426 | None | None | N |
| D/P | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | 2.209 | Highly Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/Q | 0.9801 | likely_pathogenic | 0.9842 | pathogenic | 0.629 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| D/R | 0.9937 | likely_pathogenic | 0.9951 | pathogenic | 0.84 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/S | 0.8914 | likely_pathogenic | 0.9148 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/T | 0.9788 | likely_pathogenic | 0.9846 | pathogenic | 0.391 | Stabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/V | 0.9729 | likely_pathogenic | 0.9803 | pathogenic | 2.209 | Highly Stabilizing | 1.0 | D | 0.851 | deleterious | D | 0.643781409 | None | None | N |
| D/W | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | 1.71 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/Y | 0.9653 | likely_pathogenic | 0.9713 | pathogenic | 2.148 | Highly Stabilizing | 1.0 | D | 0.857 | deleterious | D | 0.631739207 | 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.