Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21624 | 65095;65096;65097 | chr2:178584771;178584770;178584769 | chr2:179449498;179449497;179449496 |
| N2AB | 19983 | 60172;60173;60174 | chr2:178584771;178584770;178584769 | chr2:179449498;179449497;179449496 |
| N2A | 19056 | 57391;57392;57393 | chr2:178584771;178584770;178584769 | chr2:179449498;179449497;179449496 |
| N2B | 12559 | 37900;37901;37902 | chr2:178584771;178584770;178584769 | chr2:179449498;179449497;179449496 |
| Novex-1 | 12684 | 38275;38276;38277 | chr2:178584771;178584770;178584769 | chr2:179449498;179449497;179449496 |
| Novex-2 | 12751 | 38476;38477;38478 | chr2:178584771;178584770;178584769 | chr2:179449498;179449497;179449496 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs2048563467  |
None | 1.0 | D | 0.84 | 0.857 | 0.928909811727 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs2048563467 |
None | 1.0 | D | 0.84 | 0.857 | 0.928909811727 | gnomAD-4.0.0 | 6.57445E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9841 | likely_pathogenic | 0.9905 | pathogenic | -2.78 | Highly Destabilizing | 0.999 | D | 0.818 | deleterious | None | None | None | None | N |
| L/C | 0.9779 | likely_pathogenic | 0.9842 | pathogenic | -2.024 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| L/D | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.839 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/E | 0.9974 | likely_pathogenic | 0.9985 | pathogenic | -2.663 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| L/F | 0.8953 | likely_pathogenic | 0.9172 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| L/G | 0.993 | likely_pathogenic | 0.9957 | pathogenic | -3.3 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/H | 0.994 | likely_pathogenic | 0.9965 | pathogenic | -2.56 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| L/I | 0.5959 | likely_pathogenic | 0.6624 | pathogenic | -1.295 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | N |
| L/K | 0.9932 | likely_pathogenic | 0.996 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| L/M | 0.5861 | likely_pathogenic | 0.6313 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.631312367 | None | None | N |
| L/N | 0.9943 | likely_pathogenic | 0.9965 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/P | 0.9959 | likely_pathogenic | 0.9972 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.680409832 | None | None | N |
| L/Q | 0.9915 | likely_pathogenic | 0.9955 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.680409832 | None | None | N |
| L/R | 0.9865 | likely_pathogenic | 0.9922 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.680409832 | None | None | N |
| L/S | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -3.125 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| L/T | 0.9874 | likely_pathogenic | 0.9926 | pathogenic | -2.804 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| L/V | 0.7029 | likely_pathogenic | 0.7721 | pathogenic | -1.769 | Destabilizing | 0.999 | D | 0.837 | deleterious | D | 0.607661933 | None | None | N |
| L/W | 0.9882 | likely_pathogenic | 0.9924 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| L/Y | 0.9843 | likely_pathogenic | 0.9901 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.795 | 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.