Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20253 | 60982;60983;60984 | chr2:178590968;178590967;178590966 | chr2:179455695;179455694;179455693 |
| N2AB | 18612 | 56059;56060;56061 | chr2:178590968;178590967;178590966 | chr2:179455695;179455694;179455693 |
| N2A | 17685 | 53278;53279;53280 | chr2:178590968;178590967;178590966 | chr2:179455695;179455694;179455693 |
| N2B | 11188 | 33787;33788;33789 | chr2:178590968;178590967;178590966 | chr2:179455695;179455694;179455693 |
| Novex-1 | 11313 | 34162;34163;34164 | chr2:178590968;178590967;178590966 | chr2:179455695;179455694;179455693 |
| Novex-2 | 11380 | 34363;34364;34365 | chr2:178590968;178590967;178590966 | chr2:179455695;179455694;179455693 |
| 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/A | rs370280223  |
None | 1.0 | D | 0.759 | 0.627 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs370280223 |
None | 1.0 | D | 0.759 | 0.627 | None | gnomAD-4.0.0 | 2.56353E-06 | None | None | None | None | I | None | 3.38547E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | None | None | 1.0 | D | 0.923 | 0.637 | 0.55810899713 | gnomAD-4.0.0 | 1.59203E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85999E-06 | 0 | 0 |
| G/S | rs781372817 |
-0.851 | 1.0 | D | 0.863 | 0.644 | 0.480198768302 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.95E-06 | 0 |
| G/S | rs781372817 |
-0.851 | 1.0 | D | 0.863 | 0.644 | 0.480198768302 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| G/S | rs781372817 |
-0.851 | 1.0 | D | 0.863 | 0.644 | 0.480198768302 | gnomAD-4.0.0 | 6.1985E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47774E-07 | 8.78522E-05 | 1.60154E-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 | 0.8928 | likely_pathogenic | 0.8772 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.558346385 | None | None | I |
| G/C | 0.9641 | likely_pathogenic | 0.9612 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.559613833 | None | None | I |
| G/D | 0.9783 | likely_pathogenic | 0.975 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.547750548 | None | None | I |
| G/E | 0.9913 | likely_pathogenic | 0.9909 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/F | 0.9957 | likely_pathogenic | 0.9956 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/H | 0.9939 | likely_pathogenic | 0.9934 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/I | 0.9956 | likely_pathogenic | 0.9953 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/K | 0.9936 | likely_pathogenic | 0.9933 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/L | 0.9932 | likely_pathogenic | 0.9931 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/M | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/N | 0.9877 | likely_pathogenic | 0.9855 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/Q | 0.9894 | likely_pathogenic | 0.9879 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | I |
| G/R | 0.9801 | likely_pathogenic | 0.9779 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.540749109 | None | None | I |
| G/S | 0.8372 | likely_pathogenic | 0.8205 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.54673659 | None | None | I |
| G/T | 0.9693 | likely_pathogenic | 0.9681 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/V | 0.9906 | likely_pathogenic | 0.9905 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.535633774 | None | None | I |
| G/W | 0.9904 | likely_pathogenic | 0.9893 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/Y | 0.9935 | likely_pathogenic | 0.9925 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.892 | 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.