Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1758 | 5497;5498;5499 | chr2:178776592;178776591;178776590 | chr2:179641319;179641318;179641317 |
| N2AB | 1758 | 5497;5498;5499 | chr2:178776592;178776591;178776590 | chr2:179641319;179641318;179641317 |
| N2A | 1758 | 5497;5498;5499 | chr2:178776592;178776591;178776590 | chr2:179641319;179641318;179641317 |
| N2B | 1712 | 5359;5360;5361 | chr2:178776592;178776591;178776590 | chr2:179641319;179641318;179641317 |
| Novex-1 | 1712 | 5359;5360;5361 | chr2:178776592;178776591;178776590 | chr2:179641319;179641318;179641317 |
| Novex-2 | 1712 | 5359;5360;5361 | chr2:178776592;178776591;178776590 | chr2:179641319;179641318;179641317 |
| Novex-3 | 1758 | 5497;5498;5499 | chr2:178776592;178776591;178776590 | chr2:179641319;179641318;179641317 |
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 | None | None | 1.0 | D | 0.694 | 0.797 | 0.505151966591 | gnomAD-4.0.0 | 2.05246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47794E-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 | 0.945 | likely_pathogenic | 0.9472 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | D | 0.704868488 | None | None | N |
| G/C | 0.9888 | likely_pathogenic | 0.9894 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/D | 0.9961 | likely_pathogenic | 0.9965 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/E | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.612498943 | None | None | N |
| G/F | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/H | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/I | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/K | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/L | 0.9951 | likely_pathogenic | 0.9957 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/M | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/N | 0.9943 | likely_pathogenic | 0.9951 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/P | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Q | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/R | 0.9959 | likely_pathogenic | 0.9963 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.651759086 | None | None | N |
| G/S | 0.9093 | likely_pathogenic | 0.9127 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/T | 0.9904 | likely_pathogenic | 0.9913 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/V | 0.9955 | likely_pathogenic | 0.9965 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.698570242 | None | None | N |
| G/W | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.757974073 | None | None | N |
| G/Y | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
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.