Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24620 | 74083;74084;74085 | chr2:178572274;178572273;178572272 | chr2:179437001;179437000;179436999 |
| N2AB | 22979 | 69160;69161;69162 | chr2:178572274;178572273;178572272 | chr2:179437001;179437000;179436999 |
| N2A | 22052 | 66379;66380;66381 | chr2:178572274;178572273;178572272 | chr2:179437001;179437000;179436999 |
| N2B | 15555 | 46888;46889;46890 | chr2:178572274;178572273;178572272 | chr2:179437001;179437000;179436999 |
| Novex-1 | 15680 | 47263;47264;47265 | chr2:178572274;178572273;178572272 | chr2:179437001;179437000;179436999 |
| Novex-2 | 15747 | 47464;47465;47466 | chr2:178572274;178572273;178572272 | chr2:179437001;179437000;179436999 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs370763285  |
-0.618 | 1.0 | D | 0.909 | 0.661 | None | gnomAD-2.1.1 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96374E-04 | None | 0 | 3.92E-05 | 0 |
| P/L | rs370763285 |
-0.618 | 1.0 | D | 0.909 | 0.661 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| P/L | rs370763285 |
-0.618 | 1.0 | D | 0.909 | 0.661 | None | gnomAD-4.0.0 | 5.20773E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.74814E-05 | 2.85614E-04 | 3.20369E-05 |
| P/Q | None | None | 1.0 | D | 0.887 | 0.68 | 0.817885983926 | gnomAD-4.0.0 | 6.84499E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99745E-07 | 0 | 0 |
| P/S | rs1191890177 |
-2.971 | 1.0 | D | 0.868 | 0.685 | 0.676786465919 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8416 | likely_pathogenic | 0.7791 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.52060889 | None | None | N |
| P/C | 0.983 | likely_pathogenic | 0.9788 | pathogenic | -2.361 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.422 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/E | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -3.17 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/G | 0.9972 | likely_pathogenic | 0.996 | pathogenic | -2.924 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/H | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -2.56 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/I | 0.9237 | likely_pathogenic | 0.8988 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/L | 0.9458 | likely_pathogenic | 0.916 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.551119407 | None | None | N |
| P/M | 0.9913 | likely_pathogenic | 0.9866 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/Q | 0.9983 | likely_pathogenic | 0.9973 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.538904182 | None | None | N |
| P/R | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -1.791 | Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.543993064 | None | None | N |
| P/S | 0.9898 | likely_pathogenic | 0.9844 | pathogenic | -2.947 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.544246553 | None | None | N |
| P/T | 0.9577 | likely_pathogenic | 0.9395 | pathogenic | -2.556 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.551879876 | None | None | N |
| P/V | 0.7491 | likely_pathogenic | 0.7104 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.929 | 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.