Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19508 | 58747;58748;58749 | chr2:178593778;178593777;178593776 | chr2:179458505;179458504;179458503 |
| N2AB | 17867 | 53824;53825;53826 | chr2:178593778;178593777;178593776 | chr2:179458505;179458504;179458503 |
| N2A | 16940 | 51043;51044;51045 | chr2:178593778;178593777;178593776 | chr2:179458505;179458504;179458503 |
| N2B | 10443 | 31552;31553;31554 | chr2:178593778;178593777;178593776 | chr2:179458505;179458504;179458503 |
| Novex-1 | 10568 | 31927;31928;31929 | chr2:178593778;178593777;178593776 | chr2:179458505;179458504;179458503 |
| Novex-2 | 10635 | 32128;32129;32130 | chr2:178593778;178593777;178593776 | chr2:179458505;179458504;179458503 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | D | 0.852 | 0.624 | 0.541466613703 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9269 | likely_pathogenic | 0.9468 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.52714958 | None | None | I |
| G/C | 0.9787 | likely_pathogenic | 0.9841 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/D | 0.993 | likely_pathogenic | 0.9945 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/E | 0.9953 | likely_pathogenic | 0.9956 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.537998907 | None | None | I |
| G/F | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/H | 0.9969 | likely_pathogenic | 0.9977 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/I | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/K | 0.9958 | likely_pathogenic | 0.996 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/L | 0.9969 | likely_pathogenic | 0.9972 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/N | 0.9943 | likely_pathogenic | 0.9968 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Q | 0.9959 | likely_pathogenic | 0.9965 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/R | 0.9841 | likely_pathogenic | 0.9837 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.492409101 | None | None | I |
| G/S | 0.9218 | likely_pathogenic | 0.9436 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/T | 0.9908 | likely_pathogenic | 0.9923 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/V | 0.9938 | likely_pathogenic | 0.9944 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.539519844 | None | None | I |
| G/W | 0.994 | likely_pathogenic | 0.9939 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Y | 0.9966 | likely_pathogenic | 0.9973 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
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.