Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31044 | 93355;93356;93357 | chr2:178548496;178548495;178548494 | chr2:179413223;179413222;179413221 |
| N2AB | 29403 | 88432;88433;88434 | chr2:178548496;178548495;178548494 | chr2:179413223;179413222;179413221 |
| N2A | 28476 | 85651;85652;85653 | chr2:178548496;178548495;178548494 | chr2:179413223;179413222;179413221 |
| N2B | 21979 | 66160;66161;66162 | chr2:178548496;178548495;178548494 | chr2:179413223;179413222;179413221 |
| Novex-1 | 22104 | 66535;66536;66537 | chr2:178548496;178548495;178548494 | chr2:179413223;179413222;179413221 |
| Novex-2 | 22171 | 66736;66737;66738 | chr2:178548496;178548495;178548494 | chr2:179413223;179413222;179413221 |
| 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/C | rs750213547  |
None | 1.0 | D | 0.816 | 0.544 | 0.785716357357 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 0 | 5.24384E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| G/C | rs750213547 |
None | 1.0 | D | 0.816 | 0.544 | 0.785716357357 | gnomAD-4.0.0 | 1.1774E-05 | None | None | None | None | I | None | 0 | 1.33387E-04 | None | 0 | 4.45593E-05 | None | 0 | 0 | 0 | 0 | 1.44088E-04 |
| G/D | rs570464905 |
-0.35 | 1.0 | D | 0.845 | 0.639 | 0.398283496042 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| G/D | rs570464905 |
-0.35 | 1.0 | D | 0.845 | 0.639 | 0.398283496042 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/D | rs570464905 |
-0.35 | 1.0 | D | 0.845 | 0.639 | 0.398283496042 | gnomAD-4.0.0 | 2.91245E-05 | None | None | None | None | I | None | 1.33476E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.89891E-05 | 0 | 0 |
| G/S | rs750213547 |
-0.626 | 0.998 | D | 0.643 | 0.459 | None | gnomAD-2.1.1 | 4.83E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.91E-05 | 1.66003E-04 |
| G/S | rs750213547 |
-0.626 | 0.998 | D | 0.643 | 0.459 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| G/S | rs750213547 |
-0.626 | 0.998 | D | 0.643 | 0.459 | None | gnomAD-4.0.0 | 6.25881E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.05208E-05 | 2.19582E-05 | 6.40389E-05 |
| G/V | rs570464905 |
-0.186 | 1.0 | D | 0.849 | 0.474 | None | gnomAD-2.1.1 | 1.21493E-04 | None | None | None | None | I | None | 0 | 1.13135E-04 | None | 0 | 0 | None | 0 | None | 4E-05 | 2.19209E-04 | 1.40568E-04 |
| G/V | rs570464905 |
-0.186 | 1.0 | D | 0.849 | 0.474 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 1.76414E-04 | 0 | 4.78011E-04 |
| G/V | rs570464905 |
-0.186 | 1.0 | D | 0.849 | 0.474 | None | gnomAD-4.0.0 | 1.6917E-04 | None | None | None | None | I | None | 0 | 8.33611E-05 | None | 0 | 0 | None | 1.56226E-05 | 0 | 2.1783E-04 | 0 | 1.60092E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9458 | likely_pathogenic | 0.9397 | pathogenic | -0.302 | Destabilizing | 0.998 | D | 0.619 | neutral | D | 0.527683012 | None | None | I |
| G/C | 0.9863 | likely_pathogenic | 0.9842 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.560879783 | None | None | I |
| G/D | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.540151727 | None | None | I |
| G/E | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/F | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/H | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/I | 0.998 | likely_pathogenic | 0.9978 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.998 | likely_pathogenic | 0.998 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/L | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/M | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/N | 0.9964 | likely_pathogenic | 0.996 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/Q | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/R | 0.9921 | likely_pathogenic | 0.9917 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.527429523 | None | None | I |
| G/S | 0.9339 | likely_pathogenic | 0.9223 | pathogenic | -0.498 | Destabilizing | 0.998 | D | 0.643 | neutral | D | 0.528884327 | None | None | I |
| G/T | 0.9924 | likely_pathogenic | 0.991 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/V | 0.9953 | likely_pathogenic | 0.9947 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.549016498 | None | None | I |
| G/W | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/Y | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | 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.