Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21820 | 65683;65684;65685 | chr2:178583724;178583723;178583722 | chr2:179448451;179448450;179448449 |
| N2AB | 20179 | 60760;60761;60762 | chr2:178583724;178583723;178583722 | chr2:179448451;179448450;179448449 |
| N2A | 19252 | 57979;57980;57981 | chr2:178583724;178583723;178583722 | chr2:179448451;179448450;179448449 |
| N2B | 12755 | 38488;38489;38490 | chr2:178583724;178583723;178583722 | chr2:179448451;179448450;179448449 |
| Novex-1 | 12880 | 38863;38864;38865 | chr2:178583724;178583723;178583722 | chr2:179448451;179448450;179448449 |
| Novex-2 | 12947 | 39064;39065;39066 | chr2:178583724;178583723;178583722 | chr2:179448451;179448450;179448449 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs56130023  |
-0.088 | 0.134 | N | 0.347 | 0.302 | None | gnomAD-2.1.1 | 9.87908E-04 | None | None | None | None | N | None | 1.28855E-03 | 4.26524E-04 | None | 1.6738E-02 | 0 | None | 3.29E-05 | None | 0 | 3.22079E-04 | 2.12465E-03 |
| T/I | rs56130023 |
-0.088 | 0.134 | N | 0.347 | 0.302 | None | gnomAD-3.1.2 | 7.82462E-04 | None | None | None | None | N | None | 1.01351E-03 | 2.62261E-04 | 0 | 1.4977E-02 | 0 | None | 0 | 0 | 2.20595E-04 | 0 | 2.86807E-03 |
| T/I | rs56130023 |
-0.088 | 0.134 | N | 0.347 | 0.302 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/I | rs56130023 |
-0.088 | 0.134 | N | 0.347 | 0.302 | None | gnomAD-4.0.0 | 5.99741E-04 | None | None | None | None | N | None | 1.36025E-03 | 4.17376E-04 | None | 1.67501E-02 | 0 | None | 0 | 3.63757E-03 | 1.76394E-04 | 1.10018E-05 | 1.82739E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1147 | likely_benign | 0.1027 | benign | -0.766 | Destabilizing | 0.826 | D | 0.507 | neutral | N | 0.474262982 | None | None | N |
| T/C | 0.4147 | ambiguous | 0.3502 | ambiguous | -0.45 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| T/D | 0.5766 | likely_pathogenic | 0.5413 | ambiguous | 0.295 | Stabilizing | 0.997 | D | 0.556 | neutral | None | None | None | None | N |
| T/E | 0.3478 | ambiguous | 0.319 | benign | 0.281 | Stabilizing | 0.997 | D | 0.547 | neutral | None | None | None | None | N |
| T/F | 0.2923 | likely_benign | 0.2569 | benign | -0.975 | Destabilizing | 0.991 | D | 0.62 | neutral | None | None | None | None | N |
| T/G | 0.4571 | ambiguous | 0.4081 | ambiguous | -0.988 | Destabilizing | 0.99 | D | 0.567 | neutral | None | None | None | None | N |
| T/H | 0.2996 | likely_benign | 0.2662 | benign | -1.238 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| T/I | 0.128 | likely_benign | 0.1139 | benign | -0.277 | Destabilizing | 0.134 | N | 0.347 | neutral | N | 0.481326874 | None | None | N |
| T/K | 0.2216 | likely_benign | 0.2003 | benign | -0.496 | Destabilizing | 0.996 | D | 0.545 | neutral | N | 0.48604667 | None | None | N |
| T/L | 0.1023 | likely_benign | 0.0958 | benign | -0.277 | Destabilizing | 0.759 | D | 0.429 | neutral | None | None | None | None | N |
| T/M | 0.0909 | likely_benign | 0.0846 | benign | -0.092 | Destabilizing | 0.991 | D | 0.561 | neutral | None | None | None | None | N |
| T/N | 0.2287 | likely_benign | 0.202 | benign | -0.417 | Destabilizing | 0.997 | D | 0.505 | neutral | None | None | None | None | N |
| T/P | 0.303 | likely_benign | 0.2972 | benign | -0.409 | Destabilizing | 0.996 | D | 0.553 | neutral | D | 0.523258264 | None | None | N |
| T/Q | 0.2366 | likely_benign | 0.2153 | benign | -0.558 | Destabilizing | 0.997 | D | 0.563 | neutral | None | None | None | None | N |
| T/R | 0.1691 | likely_benign | 0.1595 | benign | -0.305 | Destabilizing | 0.996 | D | 0.558 | neutral | N | 0.516369577 | None | None | N |
| T/S | 0.1748 | likely_benign | 0.1534 | benign | -0.741 | Destabilizing | 0.959 | D | 0.529 | neutral | N | 0.475895597 | None | None | N |
| T/V | 0.0996 | likely_benign | 0.0909 | benign | -0.409 | Destabilizing | 0.079 | N | 0.289 | neutral | None | None | None | None | N |
| T/W | 0.6568 | likely_pathogenic | 0.6262 | pathogenic | -0.904 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| T/Y | 0.3625 | ambiguous | 0.3266 | benign | -0.658 | Destabilizing | 0.997 | D | 0.619 | 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.