Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7055 | 21388;21389;21390 | chr2:178724096;178724095;178724094 | chr2:179588823;179588822;179588821 |
| N2AB | 6738 | 20437;20438;20439 | chr2:178724096;178724095;178724094 | chr2:179588823;179588822;179588821 |
| N2A | 5811 | 17656;17657;17658 | chr2:178724096;178724095;178724094 | chr2:179588823;179588822;179588821 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/V | rs1189873191  |
-0.078 | 0.993 | N | 0.74 | 0.309 | 0.708674432205 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| G/V | rs1189873191 |
-0.078 | 0.993 | N | 0.74 | 0.309 | 0.708674432205 | gnomAD-4.0.0 | 4.79138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29797E-06 | 0 | 0 |
| G/W | rs375219301 |
-1.106 | 1.0 | N | 0.621 | 0.417 | None | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 1.94351E-04 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.67056E-04 |
| G/W | rs375219301 |
-1.106 | 1.0 | N | 0.621 | 0.417 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20604E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/W | rs375219301 |
-1.106 | 1.0 | N | 0.621 | 0.417 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/W | rs375219301 |
-1.106 | 1.0 | N | 0.621 | 0.417 | None | gnomAD-4.0.0 | 6.81871E-06 | None | None | None | None | N | None | 9.33134E-05 | 3.33622E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20318E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0959 | likely_benign | 0.0821 | benign | -0.606 | Destabilizing | 0.955 | D | 0.481 | neutral | N | 0.418229742 | None | None | N |
| G/C | 0.1705 | likely_benign | 0.1652 | benign | -0.922 | Destabilizing | 0.483 | N | 0.579 | neutral | None | None | None | None | N |
| G/D | 0.3261 | likely_benign | 0.3281 | benign | -1.004 | Destabilizing | 0.995 | D | 0.749 | deleterious | None | None | None | None | N |
| G/E | 0.296 | likely_benign | 0.2813 | benign | -1.111 | Destabilizing | 0.993 | D | 0.719 | prob.delet. | N | 0.494866515 | None | None | N |
| G/F | 0.5293 | ambiguous | 0.5332 | ambiguous | -1.074 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/H | 0.4669 | ambiguous | 0.4427 | ambiguous | -1.124 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/I | 0.223 | likely_benign | 0.2236 | benign | -0.414 | Destabilizing | 0.995 | D | 0.746 | deleterious | None | None | None | None | N |
| G/K | 0.4615 | ambiguous | 0.4444 | ambiguous | -1.242 | Destabilizing | 0.995 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/L | 0.3816 | ambiguous | 0.3551 | ambiguous | -0.414 | Destabilizing | 0.99 | D | 0.74 | deleterious | None | None | None | None | N |
| G/M | 0.3966 | ambiguous | 0.3736 | ambiguous | -0.369 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/N | 0.3542 | ambiguous | 0.3542 | ambiguous | -0.848 | Destabilizing | 0.995 | D | 0.793 | deleterious | None | None | None | None | N |
| G/P | 0.8487 | likely_pathogenic | 0.8376 | pathogenic | -0.439 | Destabilizing | 0.998 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/Q | 0.3879 | ambiguous | 0.3646 | ambiguous | -1.089 | Destabilizing | 0.998 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/R | 0.3442 | ambiguous | 0.3171 | benign | -0.842 | Destabilizing | 0.997 | D | 0.725 | prob.delet. | N | 0.51974353 | None | None | N |
| G/S | 0.0995 | likely_benign | 0.0903 | benign | -1.048 | Destabilizing | 0.835 | D | 0.417 | neutral | None | None | None | None | N |
| G/T | 0.1384 | likely_benign | 0.1302 | benign | -1.082 | Destabilizing | 0.99 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/V | 0.1541 | likely_benign | 0.1433 | benign | -0.439 | Destabilizing | 0.993 | D | 0.74 | deleterious | N | 0.408759323 | None | None | N |
| G/W | 0.4776 | ambiguous | 0.4738 | ambiguous | -1.348 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.514672818 | None | None | N |
| G/Y | 0.444 | ambiguous | 0.4338 | ambiguous | -0.97 | Destabilizing | 1.0 | D | 0.747 | deleterious | 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.