Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32429 | 97510;97511;97512 | chr2:178542471;178542470;178542469 | chr2:179407198;179407197;179407196 |
| N2AB | 30788 | 92587;92588;92589 | chr2:178542471;178542470;178542469 | chr2:179407198;179407197;179407196 |
| N2A | 29861 | 89806;89807;89808 | chr2:178542471;178542470;178542469 | chr2:179407198;179407197;179407196 |
| N2B | 23364 | 70315;70316;70317 | chr2:178542471;178542470;178542469 | chr2:179407198;179407197;179407196 |
| Novex-1 | 23489 | 70690;70691;70692 | chr2:178542471;178542470;178542469 | chr2:179407198;179407197;179407196 |
| Novex-2 | 23556 | 70891;70892;70893 | chr2:178542471;178542470;178542469 | chr2:179407198;179407197;179407196 |
| 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/S | rs397517768  |
-0.505 | 1.0 | N | 0.716 | 0.402 | 0.367612772649 | gnomAD-2.1.1 | 5.24E-05 | None | None | None | None | I | None | 0 | 3.48412E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66223E-04 |
| G/S | rs397517768 |
-0.505 | 1.0 | N | 0.716 | 0.402 | 0.367612772649 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs397517768 |
-0.505 | 1.0 | N | 0.716 | 0.402 | 0.367612772649 | gnomAD-4.0.0 | 2.1781E-05 | None | None | None | None | I | None | 1.6885E-05 | 2.37216E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34037E-05 | 2.84398E-05 |
| G/V | None | None | 1.0 | D | 0.797 | 0.479 | 0.675195094354 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85887E-06 | 0 | 0 |
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 | 0.8905 | likely_pathogenic | 0.8477 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.502458279 | None | None | I |
| G/C | 0.9505 | likely_pathogenic | 0.9262 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.532870345 | None | None | I |
| G/D | 0.9856 | likely_pathogenic | 0.9814 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.509699981 | None | None | I |
| G/E | 0.9893 | likely_pathogenic | 0.9853 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/F | 0.9904 | likely_pathogenic | 0.9879 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.9926 | likely_pathogenic | 0.99 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.9878 | likely_pathogenic | 0.9823 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9921 | likely_pathogenic | 0.9896 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/L | 0.9843 | likely_pathogenic | 0.9802 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/M | 0.9895 | likely_pathogenic | 0.9854 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/N | 0.9798 | likely_pathogenic | 0.9737 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/P | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/Q | 0.986 | likely_pathogenic | 0.9808 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/R | 0.9791 | likely_pathogenic | 0.9705 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.502965258 | None | None | I |
| G/S | 0.8551 | likely_pathogenic | 0.8087 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.501470774 | None | None | I |
| G/T | 0.9722 | likely_pathogenic | 0.9637 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/V | 0.9798 | likely_pathogenic | 0.9705 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.549542568 | None | None | I |
| G/W | 0.9886 | likely_pathogenic | 0.9839 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Y | 0.988 | likely_pathogenic | 0.9834 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.773 | 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.