Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31736 | 95431;95432;95433 | chr2:178546030;178546029;178546028 | chr2:179410757;179410756;179410755 |
| N2AB | 30095 | 90508;90509;90510 | chr2:178546030;178546029;178546028 | chr2:179410757;179410756;179410755 |
| N2A | 29168 | 87727;87728;87729 | chr2:178546030;178546029;178546028 | chr2:179410757;179410756;179410755 |
| N2B | 22671 | 68236;68237;68238 | chr2:178546030;178546029;178546028 | chr2:179410757;179410756;179410755 |
| Novex-1 | 22796 | 68611;68612;68613 | chr2:178546030;178546029;178546028 | chr2:179410757;179410756;179410755 |
| Novex-2 | 22863 | 68812;68813;68814 | chr2:178546030;178546029;178546028 | chr2:179410757;179410756;179410755 |
| 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 | rs1401862112  |
None | 1.0 | D | 0.727 | 0.555 | 0.341226946553 | gnomAD-4.0.0 | 4.10542E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39694E-06 | 0 | 0 |
| G/E | rs1401862112 |
-0.569 | 1.0 | D | 0.847 | 0.673 | 0.630653710976 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87853E-04 | 0 | 0 |
| G/E | rs1401862112 |
-0.569 | 1.0 | D | 0.847 | 0.673 | 0.630653710976 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1401862112 |
-0.569 | 1.0 | D | 0.847 | 0.673 | 0.630653710976 | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| G/R | rs771799061 |
-0.42 | 1.0 | N | 0.827 | 0.606 | 0.66194393445 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs771799061 |
-0.42 | 1.0 | N | 0.827 | 0.606 | 0.66194393445 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| G/R | rs771799061 |
-0.42 | 1.0 | N | 0.827 | 0.606 | 0.66194393445 | gnomAD-4.0.0 | 8.6759E-06 | None | None | None | None | I | None | 0 | 1.66672E-05 | None | 0 | 6.69135E-05 | None | 0 | 1.64528E-04 | 5.93339E-06 | 2.19568E-05 | 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 | 0.9151 | likely_pathogenic | 0.9515 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.532580857 | None | None | I |
| G/C | 0.9765 | likely_pathogenic | 0.9854 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/D | 0.9945 | likely_pathogenic | 0.9961 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/E | 0.996 | likely_pathogenic | 0.9975 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.543430183 | None | None | I |
| G/F | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/H | 0.997 | likely_pathogenic | 0.998 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/I | 0.997 | likely_pathogenic | 0.998 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/K | 0.9962 | likely_pathogenic | 0.9974 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/L | 0.9964 | likely_pathogenic | 0.9975 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.9949 | likely_pathogenic | 0.9965 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Q | 0.9956 | likely_pathogenic | 0.9972 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/R | 0.9837 | likely_pathogenic | 0.9891 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.508209178 | None | None | I |
| G/S | 0.9056 | likely_pathogenic | 0.9446 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/T | 0.9886 | likely_pathogenic | 0.9929 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/V | 0.9934 | likely_pathogenic | 0.996 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.52980938 | None | None | I |
| G/W | 0.9932 | likely_pathogenic | 0.9954 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Y | 0.9963 | likely_pathogenic | 0.9977 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.781 | 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.