Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18551 | 55876;55877;55878 | chr2:178601346;178601345;178601344 | chr2:179466073;179466072;179466071 |
| N2AB | 16910 | 50953;50954;50955 | chr2:178601346;178601345;178601344 | chr2:179466073;179466072;179466071 |
| N2A | 15983 | 48172;48173;48174 | chr2:178601346;178601345;178601344 | chr2:179466073;179466072;179466071 |
| N2B | 9486 | 28681;28682;28683 | chr2:178601346;178601345;178601344 | chr2:179466073;179466072;179466071 |
| Novex-1 | 9611 | 29056;29057;29058 | chr2:178601346;178601345;178601344 | chr2:179466073;179466072;179466071 |
| Novex-2 | 9678 | 29257;29258;29259 | chr2:178601346;178601345;178601344 | chr2:179466073;179466072;179466071 |
| 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/S | rs370461936  |
-3.943 | 1.0 | D | 0.821 | 0.778 | None | gnomAD-4.0.0 | 6.38963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14775E-05 | 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 | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| F/C | 0.9916 | likely_pathogenic | 0.9881 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.548619013 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.386 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.159 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/G | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -2.865 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| F/H | 0.9957 | likely_pathogenic | 0.9943 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/I | 0.9702 | likely_pathogenic | 0.954 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.489387815 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| F/L | 0.9937 | likely_pathogenic | 0.9917 | pathogenic | -0.996 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | N | 0.491971936 | None | None | N |
| F/M | 0.9904 | likely_pathogenic | 0.9884 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/N | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -2.923 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -2.74 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/R | 0.9989 | likely_pathogenic | 0.9981 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/S | 0.9989 | likely_pathogenic | 0.998 | pathogenic | -3.356 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.548619013 | None | None | N |
| F/T | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -3.008 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| F/V | 0.9765 | likely_pathogenic | 0.9643 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.471760405 | None | None | N |
| F/W | 0.9255 | likely_pathogenic | 0.9249 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| F/Y | 0.7715 | likely_pathogenic | 0.7903 | pathogenic | -0.751 | Destabilizing | 0.999 | D | 0.597 | neutral | N | 0.501597176 | 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.