Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6275 | 19048;19049;19050 | chr2:178729333;178729332;178729331 | chr2:179594060;179594059;179594058 |
| N2AB | 5958 | 18097;18098;18099 | chr2:178729333;178729332;178729331 | chr2:179594060;179594059;179594058 |
| N2A | 5031 | 15316;15317;15318 | chr2:178729333;178729332;178729331 | chr2:179594060;179594059;179594058 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs184412722  |
-0.92 | 0.362 | N | 0.306 | 0.286 | None | gnomAD-2.1.1 | 3.51379E-03 | None | None | None | None | I | None | 2.06919E-04 | 7.65263E-04 | None | 1.06775E-03 | 1.02575E-04 | None | 2.2327E-02 | None | 4.01E-05 | 1.81387E-03 | 3.10209E-03 |
| N/S | rs184412722 |
-0.92 | 0.362 | N | 0.306 | 0.286 | None | gnomAD-3.1.2 | 1.8139E-03 | None | None | None | None | I | None | 2.41255E-04 | 1.83366E-03 | 0 | 8.64553E-04 | 0 | None | 9.42E-05 | 0 | 1.69063E-03 | 2.37997E-02 | 1.91022E-03 |
| N/S | rs184412722 |
-0.92 | 0.362 | N | 0.306 | 0.286 | None | 1000 genomes | 5.99042E-03 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 3E-03 | None | None | None | 2.66E-02 | None |
| N/S | rs184412722 |
-0.92 | 0.362 | N | 0.306 | 0.286 | None | gnomAD-4.0.0 | 2.22775E-03 | None | None | None | None | I | None | 3.19974E-04 | 1.00047E-03 | None | 8.45451E-04 | 1.56138E-04 | None | 7.81274E-05 | 3.96825E-03 | 1.10259E-03 | 2.15868E-02 | 2.93091E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9206 | likely_pathogenic | 0.9551 | pathogenic | -1.011 | Destabilizing | 0.966 | D | 0.627 | neutral | None | None | None | None | I |
| N/C | 0.8768 | likely_pathogenic | 0.9153 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| N/D | 0.8379 | likely_pathogenic | 0.8804 | pathogenic | -1.269 | Destabilizing | 0.977 | D | 0.55 | neutral | N | 0.513581683 | None | None | I |
| N/E | 0.9799 | likely_pathogenic | 0.9882 | pathogenic | -1.165 | Destabilizing | 0.983 | D | 0.623 | neutral | None | None | None | None | I |
| N/F | 0.9933 | likely_pathogenic | 0.996 | pathogenic | -0.937 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | I |
| N/G | 0.8232 | likely_pathogenic | 0.885 | pathogenic | -1.322 | Destabilizing | 0.966 | D | 0.511 | neutral | None | None | None | None | I |
| N/H | 0.7981 | likely_pathogenic | 0.864 | pathogenic | -1.083 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | D | 0.551057641 | None | None | I |
| N/I | 0.9575 | likely_pathogenic | 0.9684 | pathogenic | -0.222 | Destabilizing | 0.997 | D | 0.775 | deleterious | D | 0.55131113 | None | None | I |
| N/K | 0.9755 | likely_pathogenic | 0.9851 | pathogenic | -0.243 | Destabilizing | 0.977 | D | 0.637 | neutral | D | 0.550550662 | None | None | I |
| N/L | 0.8971 | likely_pathogenic | 0.9308 | pathogenic | -0.222 | Destabilizing | 0.995 | D | 0.767 | deleterious | None | None | None | None | I |
| N/M | 0.9606 | likely_pathogenic | 0.9727 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| N/P | 0.9688 | likely_pathogenic | 0.9809 | pathogenic | -0.457 | Destabilizing | 0.998 | D | 0.764 | deleterious | None | None | None | None | I |
| N/Q | 0.9718 | likely_pathogenic | 0.9849 | pathogenic | -1.074 | Destabilizing | 0.998 | D | 0.754 | deleterious | None | None | None | None | I |
| N/R | 0.9507 | likely_pathogenic | 0.9731 | pathogenic | -0.172 | Destabilizing | 0.995 | D | 0.76 | deleterious | None | None | None | None | I |
| N/S | 0.2821 | likely_benign | 0.3469 | ambiguous | -0.972 | Destabilizing | 0.362 | N | 0.306 | neutral | N | 0.498742658 | None | None | I |
| N/T | 0.757 | likely_pathogenic | 0.7981 | pathogenic | -0.69 | Destabilizing | 0.955 | D | 0.578 | neutral | N | 0.515810182 | None | None | I |
| N/V | 0.9277 | likely_pathogenic | 0.9527 | pathogenic | -0.457 | Destabilizing | 0.995 | D | 0.774 | deleterious | None | None | None | None | I |
| N/W | 0.9957 | likely_pathogenic | 0.998 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| N/Y | 0.9372 | likely_pathogenic | 0.9658 | pathogenic | -0.432 | Destabilizing | 0.999 | D | 0.783 | deleterious | D | 0.539701335 | 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.