Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24123 | 72592;72593;72594 | chr2:178573765;178573764;178573763 | chr2:179438492;179438491;179438490 |
| N2AB | 22482 | 67669;67670;67671 | chr2:178573765;178573764;178573763 | chr2:179438492;179438491;179438490 |
| N2A | 21555 | 64888;64889;64890 | chr2:178573765;178573764;178573763 | chr2:179438492;179438491;179438490 |
| N2B | 15058 | 45397;45398;45399 | chr2:178573765;178573764;178573763 | chr2:179438492;179438491;179438490 |
| Novex-1 | 15183 | 45772;45773;45774 | chr2:178573765;178573764;178573763 | chr2:179438492;179438491;179438490 |
| Novex-2 | 15250 | 45973;45974;45975 | chr2:178573765;178573764;178573763 | chr2:179438492;179438491;179438490 |
| 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/A | rs1709083806  |
None | 0.999 | D | 0.795 | 0.655 | 0.790354147914 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs1709083806 |
None | 0.999 | D | 0.795 | 0.655 | 0.790354147914 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 2.41488E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.773 | 0.655 | 0.838643100334 | gnomAD-4.0.0 | 1.62491E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.91418E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.918 | likely_pathogenic | 0.913 | pathogenic | -1.633 | Destabilizing | 0.999 | D | 0.795 | deleterious | D | 0.637468295 | None | None | N |
| P/C | 0.9917 | likely_pathogenic | 0.9911 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.195 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -3.132 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/G | 0.9953 | likely_pathogenic | 0.9944 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/H | 0.9985 | likely_pathogenic | 0.9979 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/I | 0.9927 | likely_pathogenic | 0.991 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/L | 0.9738 | likely_pathogenic | 0.9714 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.650873124 | None | None | N |
| P/M | 0.9968 | likely_pathogenic | 0.996 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Q | 0.9981 | likely_pathogenic | 0.9973 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.683345815 | None | None | N |
| P/R | 0.9962 | likely_pathogenic | 0.9952 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.667124649 | None | None | N |
| P/S | 0.9927 | likely_pathogenic | 0.9916 | pathogenic | -2.15 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.682942206 | None | None | N |
| P/T | 0.9878 | likely_pathogenic | 0.9844 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.68314401 | None | None | N |
| P/V | 0.9794 | likely_pathogenic | 0.9768 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.846 | 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.