Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25946 | 78061;78062;78063 | chr2:178568296;178568295;178568294 | chr2:179433023;179433022;179433021 |
| N2AB | 24305 | 73138;73139;73140 | chr2:178568296;178568295;178568294 | chr2:179433023;179433022;179433021 |
| N2A | 23378 | 70357;70358;70359 | chr2:178568296;178568295;178568294 | chr2:179433023;179433022;179433021 |
| N2B | 16881 | 50866;50867;50868 | chr2:178568296;178568295;178568294 | chr2:179433023;179433022;179433021 |
| Novex-1 | 17006 | 51241;51242;51243 | chr2:178568296;178568295;178568294 | chr2:179433023;179433022;179433021 |
| Novex-2 | 17073 | 51442;51443;51444 | chr2:178568296;178568295;178568294 | chr2:179433023;179433022;179433021 |
| 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/T | rs1559369489  |
None | 1.0 | N | 0.656 | 0.261 | 0.299427821978 | gnomAD-4.0.0 | 4.79048E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39763E-06 | 1.15939E-05 | 0 |
| A/V | rs1706728801 |
None | 1.0 | N | 0.589 | 0.329 | 0.534239989213 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| A/V | rs1706728801 |
None | 1.0 | N | 0.589 | 0.329 | 0.534239989213 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
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 | 0.8547 | likely_pathogenic | 0.8204 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| A/D | 0.9903 | likely_pathogenic | 0.9889 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.514611777 | None | None | N |
| A/E | 0.9739 | likely_pathogenic | 0.9708 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/F | 0.868 | likely_pathogenic | 0.8494 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| A/G | 0.6543 | likely_pathogenic | 0.6031 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.507 | neutral | N | 0.491486988 | None | None | N |
| A/H | 0.9718 | likely_pathogenic | 0.9652 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| A/I | 0.7139 | likely_pathogenic | 0.6883 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/K | 0.9823 | likely_pathogenic | 0.9799 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| A/L | 0.5547 | ambiguous | 0.5286 | ambiguous | -0.275 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| A/M | 0.6896 | likely_pathogenic | 0.6513 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| A/N | 0.9244 | likely_pathogenic | 0.9034 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/P | 0.8654 | likely_pathogenic | 0.8121 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.503376063 | None | None | N |
| A/Q | 0.9116 | likely_pathogenic | 0.8927 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/R | 0.9543 | likely_pathogenic | 0.951 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/S | 0.3307 | likely_benign | 0.3034 | benign | -0.687 | Destabilizing | 1.0 | D | 0.497 | neutral | N | 0.499738325 | None | None | N |
| A/T | 0.5448 | ambiguous | 0.5016 | ambiguous | -0.711 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.475359956 | None | None | N |
| A/V | 0.5397 | ambiguous | 0.5119 | ambiguous | -0.277 | Destabilizing | 1.0 | D | 0.589 | neutral | N | 0.494833938 | None | None | N |
| A/W | 0.9841 | likely_pathogenic | 0.9821 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| A/Y | 0.9483 | likely_pathogenic | 0.94 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | 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.