Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9972 | 30139;30140;30141 | chr2:178704558;178704557;178704556 | chr2:179569285;179569284;179569283 |
| N2AB | 9655 | 29188;29189;29190 | chr2:178704558;178704557;178704556 | chr2:179569285;179569284;179569283 |
| N2A | 8728 | 26407;26408;26409 | chr2:178704558;178704557;178704556 | chr2:179569285;179569284;179569283 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/P | None | None | 0.999 | None | 0.737 | 0.422 | 0.361360026772 | gnomAD-4.0.0 | 6.84408E-07 | None | None | None | None | N | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs752814410  |
-1.226 | 0.999 | None | 0.611 | 0.333 | 0.223847106136 | gnomAD-4.0.0 | 3.42205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51953E-05 | None | 0 | 1.7337E-04 | 2.6989E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9967 | likely_pathogenic | 0.9956 | pathogenic | -2.196 | Highly Destabilizing | 0.923 | D | 0.649 | neutral | None | None | None | None | N |
| R/C | 0.9755 | likely_pathogenic | 0.9514 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/D | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -0.909 | Destabilizing | 0.995 | D | 0.681 | prob.neutral | None | None | None | None | N |
| R/E | 0.9914 | likely_pathogenic | 0.9876 | pathogenic | -0.719 | Destabilizing | 0.983 | D | 0.579 | neutral | None | None | None | None | N |
| R/F | 0.9953 | likely_pathogenic | 0.9943 | pathogenic | -1.687 | Destabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | N |
| R/G | 0.9946 | likely_pathogenic | 0.9933 | pathogenic | -2.507 | Highly Destabilizing | 0.991 | D | 0.616 | neutral | None | None | None | None | N |
| R/H | 0.9187 | likely_pathogenic | 0.8831 | pathogenic | -2.369 | Highly Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| R/I | 0.9756 | likely_pathogenic | 0.9676 | pathogenic | -1.3 | Destabilizing | 0.998 | D | 0.766 | deleterious | None | None | None | None | N |
| R/K | 0.8807 | likely_pathogenic | 0.8766 | pathogenic | -1.625 | Destabilizing | 0.96 | D | 0.603 | neutral | None | None | None | None | N |
| R/L | 0.9713 | likely_pathogenic | 0.962 | pathogenic | -1.3 | Destabilizing | 0.991 | D | 0.631 | neutral | None | None | None | None | N |
| R/M | 0.9927 | likely_pathogenic | 0.9899 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/N | 0.9973 | likely_pathogenic | 0.9969 | pathogenic | -1.377 | Destabilizing | 0.983 | D | 0.569 | neutral | None | None | None | None | N |
| R/P | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.588 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/Q | 0.9166 | likely_pathogenic | 0.8661 | pathogenic | -1.392 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| R/S | 0.9962 | likely_pathogenic | 0.9953 | pathogenic | -2.385 | Highly Destabilizing | 0.437 | N | 0.472 | neutral | None | None | None | None | N |
| R/T | 0.9921 | likely_pathogenic | 0.9906 | pathogenic | -1.991 | Destabilizing | 0.967 | D | 0.614 | neutral | None | None | None | None | N |
| R/V | 0.9834 | likely_pathogenic | 0.979 | pathogenic | -1.588 | Destabilizing | 0.995 | D | 0.757 | deleterious | None | None | None | None | N |
| R/W | 0.9621 | likely_pathogenic | 0.9386 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| R/Y | 0.9879 | likely_pathogenic | 0.9853 | pathogenic | -0.992 | Destabilizing | 0.999 | D | 0.749 | 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.