Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8097 | 24514;24515;24516 | chr2:178718911;178718910;178718909 | chr2:179583638;179583637;179583636 |
| N2AB | 7780 | 23563;23564;23565 | chr2:178718911;178718910;178718909 | chr2:179583638;179583637;179583636 |
| N2A | 6853 | 20782;20783;20784 | chr2:178718911;178718910;178718909 | chr2:179583638;179583637;179583636 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs762434465  |
-0.555 | 0.989 | N | 0.667 | 0.484 | 0.539835882356 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| F/L | rs762434465 |
-0.555 | 0.989 | N | 0.667 | 0.484 | 0.539835882356 | gnomAD-4.0.0 | 4.77797E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58035E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9778 | likely_pathogenic | 0.966 | pathogenic | -2.029 | Highly Destabilizing | 0.992 | D | 0.778 | deleterious | None | None | None | None | N |
| F/C | 0.905 | likely_pathogenic | 0.8514 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.621004297 | None | None | N |
| F/D | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -3.002 | Highly Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| F/E | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -2.738 | Highly Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| F/G | 0.9933 | likely_pathogenic | 0.9913 | pathogenic | -2.512 | Highly Destabilizing | 0.999 | D | 0.85 | deleterious | None | None | None | None | N |
| F/H | 0.9838 | likely_pathogenic | 0.9821 | pathogenic | -2.008 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| F/I | 0.5479 | ambiguous | 0.454 | ambiguous | -0.441 | Destabilizing | 0.989 | D | 0.7 | prob.neutral | N | 0.513788943 | None | None | N |
| F/K | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -1.77 | Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| F/L | 0.8524 | likely_pathogenic | 0.8036 | pathogenic | -0.441 | Destabilizing | 0.989 | D | 0.667 | neutral | N | 0.469949428 | None | None | N |
| F/M | 0.7602 | likely_pathogenic | 0.6846 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| F/N | 0.9946 | likely_pathogenic | 0.9933 | pathogenic | -2.505 | Highly Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| F/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/Q | 0.9954 | likely_pathogenic | 0.9939 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| F/R | 0.9928 | likely_pathogenic | 0.9911 | pathogenic | -1.96 | Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| F/S | 0.9856 | likely_pathogenic | 0.9794 | pathogenic | -2.903 | Highly Destabilizing | 0.978 | D | 0.823 | deleterious | D | 0.621004297 | None | None | N |
| F/T | 0.988 | likely_pathogenic | 0.9836 | pathogenic | -2.499 | Highly Destabilizing | 0.611 | D | 0.669 | neutral | None | None | None | None | N |
| F/V | 0.6219 | likely_pathogenic | 0.5326 | ambiguous | -0.985 | Destabilizing | 0.989 | D | 0.728 | prob.delet. | D | 0.527311295 | None | None | N |
| F/W | 0.887 | likely_pathogenic | 0.8674 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| F/Y | 0.5419 | ambiguous | 0.5583 | ambiguous | -0.446 | Destabilizing | 0.998 | D | 0.602 | neutral | D | 0.604550967 | 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.