Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17224 | 51895;51896;51897 | chr2:178609753;178609752;178609751 | chr2:179474480;179474479;179474478 |
| N2AB | 15583 | 46972;46973;46974 | chr2:178609753;178609752;178609751 | chr2:179474480;179474479;179474478 |
| N2A | 14656 | 44191;44192;44193 | chr2:178609753;178609752;178609751 | chr2:179474480;179474479;179474478 |
| N2B | 8159 | 24700;24701;24702 | chr2:178609753;178609752;178609751 | chr2:179474480;179474479;179474478 |
| Novex-1 | 8284 | 25075;25076;25077 | chr2:178609753;178609752;178609751 | chr2:179474480;179474479;179474478 |
| Novex-2 | 8351 | 25276;25277;25278 | chr2:178609753;178609752;178609751 | chr2:179474480;179474479;179474478 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs2055864896  |
None | 1.0 | D | 0.621 | 0.697 | 0.657092304468 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs2055864896 |
None | 1.0 | D | 0.621 | 0.697 | 0.657092304468 | gnomAD-4.0.0 | 2.56604E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39708E-06 | 0 | 2.84884E-05 |
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 | 0.8975 | likely_pathogenic | 0.8944 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/D | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -2.929 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/E | 0.9988 | likely_pathogenic | 0.9978 | pathogenic | -2.686 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.652234007 | None | None | N |
| A/F | 0.9979 | likely_pathogenic | 0.997 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/G | 0.7176 | likely_pathogenic | 0.6413 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.599977318 | None | None | N |
| A/H | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -2.224 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/I | 0.9913 | likely_pathogenic | 0.9905 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/L | 0.9594 | likely_pathogenic | 0.9564 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/M | 0.9864 | likely_pathogenic | 0.9844 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/N | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/P | 0.9946 | likely_pathogenic | 0.9878 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.635811037 | None | None | N |
| A/Q | 0.997 | likely_pathogenic | 0.9956 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/R | 0.9981 | likely_pathogenic | 0.9969 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/S | 0.5876 | likely_pathogenic | 0.5819 | pathogenic | -2.364 | Highly Destabilizing | 1.0 | D | 0.611 | neutral | D | 0.572905135 | None | None | N |
| A/T | 0.9171 | likely_pathogenic | 0.9093 | pathogenic | -2.01 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.619388068 | None | None | N |
| A/V | 0.9387 | likely_pathogenic | 0.9352 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.62551543 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/Y | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.886 | 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.