Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1773 | 5542;5543;5544 | chr2:178776547;178776546;178776545 | chr2:179641274;179641273;179641272 |
| N2AB | 1773 | 5542;5543;5544 | chr2:178776547;178776546;178776545 | chr2:179641274;179641273;179641272 |
| N2A | 1773 | 5542;5543;5544 | chr2:178776547;178776546;178776545 | chr2:179641274;179641273;179641272 |
| N2B | 1727 | 5404;5405;5406 | chr2:178776547;178776546;178776545 | chr2:179641274;179641273;179641272 |
| Novex-1 | 1727 | 5404;5405;5406 | chr2:178776547;178776546;178776545 | chr2:179641274;179641273;179641272 |
| Novex-2 | 1727 | 5404;5405;5406 | chr2:178776547;178776546;178776545 | chr2:179641274;179641273;179641272 |
| Novex-3 | 1773 | 5542;5543;5544 | chr2:178776547;178776546;178776545 | chr2:179641274;179641273;179641272 |
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 | rs751246824  |
-0.511 | 1.0 | D | 0.715 | 0.88 | None | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 6.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/C | rs751246824 |
-0.511 | 1.0 | D | 0.715 | 0.88 | None | gnomAD-4.0.0 | 1.59626E-06 | None | None | None | None | I | None | 5.65355E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs751246824 |
None | 1.0 | D | 0.845 | 0.849 | 0.719853794368 | gnomAD-4.0.0 | 1.59626E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-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 | 0.8539 | likely_pathogenic | 0.7748 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.657545891 | None | None | I |
| G/C | 0.9888 | likely_pathogenic | 0.9828 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.817406143 | None | None | I |
| G/D | 0.9936 | likely_pathogenic | 0.9933 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.786185895 | None | None | I |
| G/E | 0.9965 | likely_pathogenic | 0.9967 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/F | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/H | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9979 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| G/K | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/L | 0.9975 | likely_pathogenic | 0.9965 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/M | 0.9988 | likely_pathogenic | 0.9981 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| G/N | 0.9936 | likely_pathogenic | 0.993 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/Q | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/R | 0.9938 | likely_pathogenic | 0.9942 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.817406143 | None | None | I |
| G/S | 0.8429 | likely_pathogenic | 0.8066 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.818281092 | None | None | I |
| G/T | 0.9889 | likely_pathogenic | 0.9841 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/V | 0.9959 | likely_pathogenic | 0.9932 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.817406143 | None | None | I |
| G/W | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | 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.