Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1532 | 4819;4820;4821 | chr2:178777471;178777470;178777469 | chr2:179642198;179642197;179642196 |
| N2AB | 1532 | 4819;4820;4821 | chr2:178777471;178777470;178777469 | chr2:179642198;179642197;179642196 |
| N2A | 1532 | 4819;4820;4821 | chr2:178777471;178777470;178777469 | chr2:179642198;179642197;179642196 |
| N2B | 1486 | 4681;4682;4683 | chr2:178777471;178777470;178777469 | chr2:179642198;179642197;179642196 |
| Novex-1 | 1486 | 4681;4682;4683 | chr2:178777471;178777470;178777469 | chr2:179642198;179642197;179642196 |
| Novex-2 | 1486 | 4681;4682;4683 | chr2:178777471;178777470;178777469 | chr2:179642198;179642197;179642196 |
| Novex-3 | 1532 | 4819;4820;4821 | chr2:178777471;178777470;178777469 | chr2:179642198;179642197;179642196 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | D | 0.784 | 0.703 | 0.684433362957 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9017 | likely_pathogenic | 0.9139 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.653 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.83361078 | None | None | N |
| A/E | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -2.464 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/F | 0.9932 | likely_pathogenic | 0.9937 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| A/G | 0.6599 | likely_pathogenic | 0.6978 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.567 | neutral | D | 0.74322312 | None | None | N |
| A/H | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/I | 0.9667 | likely_pathogenic | 0.9677 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/L | 0.9177 | likely_pathogenic | 0.922 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/M | 0.9752 | likely_pathogenic | 0.9776 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| A/N | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/P | 0.9964 | likely_pathogenic | 0.9968 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.735302849 | None | None | N |
| A/Q | 0.9958 | likely_pathogenic | 0.9962 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/R | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/S | 0.5602 | ambiguous | 0.5887 | pathogenic | -2.079 | Highly Destabilizing | 1.0 | D | 0.566 | neutral | D | 0.779443796 | None | None | N |
| A/T | 0.8765 | likely_pathogenic | 0.8893 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.801342344 | None | None | N |
| A/V | 0.8408 | likely_pathogenic | 0.8499 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.657 | neutral | D | 0.569011682 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.906 | 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.