Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15988 | 48187;48188;48189 | chr2:178616927;178616926;178616925 | chr2:179481654;179481653;179481652 |
| N2AB | 14347 | 43264;43265;43266 | chr2:178616927;178616926;178616925 | chr2:179481654;179481653;179481652 |
| N2A | 13420 | 40483;40484;40485 | chr2:178616927;178616926;178616925 | chr2:179481654;179481653;179481652 |
| N2B | 6923 | 20992;20993;20994 | chr2:178616927;178616926;178616925 | chr2:179481654;179481653;179481652 |
| Novex-1 | 7048 | 21367;21368;21369 | chr2:178616927;178616926;178616925 | chr2:179481654;179481653;179481652 |
| Novex-2 | 7115 | 21568;21569;21570 | chr2:178616927;178616926;178616925 | chr2:179481654;179481653;179481652 |
| 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 | rs1182070042  |
-0.208 | 1.0 | D | 0.787 | 0.645 | 0.516827169674 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs1182070042 |
-0.208 | 1.0 | D | 0.787 | 0.645 | 0.516827169674 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | I | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs1182070042 |
-0.208 | 1.0 | D | 0.787 | 0.645 | 0.516827169674 | gnomAD-4.0.0 | 1.86046E-06 | None | None | None | None | I | None | 0 | 1.66984E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19635E-05 | 0 |
| G/D | None | None | 1.0 | D | 0.859 | 0.739 | 0.618934792644 | gnomAD-4.0.0 | 1.36924E-06 | None | None | None | None | I | None | 2.99419E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99915E-07 | 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 | 0.5529 | ambiguous | 0.6023 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.573611336 | None | None | I |
| G/C | 0.908 | likely_pathogenic | 0.9406 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.718133133 | None | None | I |
| G/D | 0.9895 | likely_pathogenic | 0.9928 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.71903955 | None | None | I |
| G/E | 0.9934 | likely_pathogenic | 0.9955 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/F | 0.9935 | likely_pathogenic | 0.9952 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/H | 0.9967 | likely_pathogenic | 0.9976 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| G/I | 0.9856 | likely_pathogenic | 0.9916 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/K | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/L | 0.9908 | likely_pathogenic | 0.9933 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/M | 0.9957 | likely_pathogenic | 0.9972 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| G/N | 0.993 | likely_pathogenic | 0.9949 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/P | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Q | 0.995 | likely_pathogenic | 0.9962 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/R | 0.9878 | likely_pathogenic | 0.9906 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.718270329 | None | None | I |
| G/S | 0.7373 | likely_pathogenic | 0.7955 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.682208632 | None | None | I |
| G/T | 0.9632 | likely_pathogenic | 0.976 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/V | 0.9662 | likely_pathogenic | 0.9796 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.718270329 | None | None | I |
| G/W | 0.9911 | likely_pathogenic | 0.9939 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| G/Y | 0.993 | likely_pathogenic | 0.9947 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.783 | 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.