Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19412 | 58459;58460;58461 | chr2:178594159;178594158;178594157 | chr2:179458886;179458885;179458884 |
| N2AB | 17771 | 53536;53537;53538 | chr2:178594159;178594158;178594157 | chr2:179458886;179458885;179458884 |
| N2A | 16844 | 50755;50756;50757 | chr2:178594159;178594158;178594157 | chr2:179458886;179458885;179458884 |
| N2B | 10347 | 31264;31265;31266 | chr2:178594159;178594158;178594157 | chr2:179458886;179458885;179458884 |
| Novex-1 | 10472 | 31639;31640;31641 | chr2:178594159;178594158;178594157 | chr2:179458886;179458885;179458884 |
| Novex-2 | 10539 | 31840;31841;31842 | chr2:178594159;178594158;178594157 | chr2:179458886;179458885;179458884 |
| 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/D | rs998581111  |
None | 1.0 | D | 0.817 | 0.573 | 0.664353351204 | gnomAD-4.0.0 | 3.42195E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.26461E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.802 | 0.552 | 0.616482784632 | gnomAD-4.0.0 | 2.05316E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69875E-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 | 0.8592 | likely_pathogenic | 0.8158 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.546749097 | None | None | I |
| G/C | 0.9772 | likely_pathogenic | 0.9767 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | D | 0.630489098 | None | None | I |
| G/D | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.613258911 | None | None | I |
| G/E | 0.9977 | likely_pathogenic | 0.998 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/F | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| G/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/I | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/K | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/L | 0.9969 | likely_pathogenic | 0.9966 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/M | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/N | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Q | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/R | 0.9955 | likely_pathogenic | 0.9962 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.630085489 | None | None | I |
| G/S | 0.9304 | likely_pathogenic | 0.9241 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.592333732 | None | None | I |
| G/T | 0.9923 | likely_pathogenic | 0.9915 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/V | 0.9931 | likely_pathogenic | 0.992 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.630085489 | None | None | I |
| G/W | 0.9969 | likely_pathogenic | 0.9975 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.749 | 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.