Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1630 | 5113;5114;5115 | chr2:178776976;178776975;178776974 | chr2:179641703;179641702;179641701 |
| N2AB | 1630 | 5113;5114;5115 | chr2:178776976;178776975;178776974 | chr2:179641703;179641702;179641701 |
| N2A | 1630 | 5113;5114;5115 | chr2:178776976;178776975;178776974 | chr2:179641703;179641702;179641701 |
| N2B | 1584 | 4975;4976;4977 | chr2:178776976;178776975;178776974 | chr2:179641703;179641702;179641701 |
| Novex-1 | 1584 | 4975;4976;4977 | chr2:178776976;178776975;178776974 | chr2:179641703;179641702;179641701 |
| Novex-2 | 1584 | 4975;4976;4977 | chr2:178776976;178776975;178776974 | chr2:179641703;179641702;179641701 |
| Novex-3 | 1630 | 5113;5114;5115 | chr2:178776976;178776975;178776974 | chr2:179641703;179641702;179641701 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs371601918  |
0.645 | 0.252 | N | 0.403 | 0.223 | 0.43046518545 | gnomAD-2.1.1 | 8E-06 | None | None | None | None | N | None | 6.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| A/V | rs371601918 |
0.645 | 0.252 | N | 0.403 | 0.223 | 0.43046518545 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs371601918 |
0.645 | 0.252 | N | 0.403 | 0.223 | 0.43046518545 | gnomAD-4.0.0 | 8.05554E-06 | None | None | None | None | N | None | 5.34117E-05 | 0 | None | 0 | 8.91663E-05 | None | 0 | 1.64366E-04 | 2.54242E-06 | 0 | 1.60056E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8401 | likely_pathogenic | 0.7991 | pathogenic | -0.66 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | None | None | None | None | N |
| A/D | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.975 | Destabilizing | 0.975 | D | 0.868 | deleterious | None | None | None | None | N |
| A/E | 0.9983 | likely_pathogenic | 0.9975 | pathogenic | -1.71 | Destabilizing | 0.987 | D | 0.769 | deleterious | N | 0.519719377 | None | None | N |
| A/F | 0.9921 | likely_pathogenic | 0.9861 | pathogenic | -0.311 | Destabilizing | 0.975 | D | 0.879 | deleterious | None | None | None | None | N |
| A/G | 0.637 | likely_pathogenic | 0.5542 | ambiguous | -1.216 | Destabilizing | 0.954 | D | 0.691 | prob.neutral | N | 0.519719377 | None | None | N |
| A/H | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.917 | Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | N |
| A/I | 0.9162 | likely_pathogenic | 0.8709 | pathogenic | 0.848 | Stabilizing | 0.95 | D | 0.775 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.66 | Destabilizing | 0.975 | D | 0.775 | deleterious | None | None | None | None | N |
| A/L | 0.8542 | likely_pathogenic | 0.8169 | pathogenic | 0.848 | Stabilizing | 0.845 | D | 0.755 | deleterious | None | None | None | None | N |
| A/M | 0.9332 | likely_pathogenic | 0.907 | pathogenic | 0.453 | Stabilizing | 0.997 | D | 0.781 | deleterious | None | None | None | None | N |
| A/N | 0.9972 | likely_pathogenic | 0.9959 | pathogenic | -1.125 | Destabilizing | 0.975 | D | 0.875 | deleterious | None | None | None | None | N |
| A/P | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | 0.389 | Stabilizing | 0.983 | D | 0.792 | deleterious | N | 0.519719377 | None | None | N |
| A/Q | 0.9953 | likely_pathogenic | 0.994 | pathogenic | -0.778 | Destabilizing | 0.987 | D | 0.791 | deleterious | None | None | None | None | N |
| A/R | 0.9979 | likely_pathogenic | 0.9971 | pathogenic | -1.09 | Destabilizing | 0.987 | D | 0.793 | deleterious | None | None | None | None | N |
| A/S | 0.565 | likely_pathogenic | 0.5053 | ambiguous | -1.532 | Destabilizing | 0.426 | N | 0.372 | neutral | N | 0.519719377 | None | None | N |
| A/T | 0.7692 | likely_pathogenic | 0.6897 | pathogenic | -1.115 | Destabilizing | 0.805 | D | 0.699 | prob.neutral | N | 0.518186103 | None | None | N |
| A/V | 0.647 | likely_pathogenic | 0.4732 | ambiguous | 0.389 | Stabilizing | 0.252 | N | 0.403 | neutral | N | 0.438187087 | None | None | N |
| A/W | 0.9998 | likely_pathogenic | 0.9995 | pathogenic | -1.218 | Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | N |
| A/Y | 0.9986 | likely_pathogenic | 0.9974 | pathogenic | -0.542 | Destabilizing | 0.987 | D | 0.887 | 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.