Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 22082 | 66469;66470;66471 | chr2:178582125;178582124;178582123 | chr2:179446852;179446851;179446850 |
N2AB | 20441 | 61546;61547;61548 | chr2:178582125;178582124;178582123 | chr2:179446852;179446851;179446850 |
N2A | 19514 | 58765;58766;58767 | chr2:178582125;178582124;178582123 | chr2:179446852;179446851;179446850 |
N2B | 13017 | 39274;39275;39276 | chr2:178582125;178582124;178582123 | chr2:179446852;179446851;179446850 |
Novex-1 | 13142 | 39649;39650;39651 | chr2:178582125;178582124;178582123 | chr2:179446852;179446851;179446850 |
Novex-2 | 13209 | 39850;39851;39852 | chr2:178582125;178582124;178582123 | chr2:179446852;179446851;179446850 |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/G | None | None | 0.963 | N | 0.689 | 0.581 | 0.467416895013 | 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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/A | 0.9512 | likely_pathogenic | 0.8383 | pathogenic | -0.258 | Destabilizing | 0.978 | D | 0.71 | prob.delet. | N | 0.493716228 | None | None | N |
D/C | 0.992 | likely_pathogenic | 0.9703 | pathogenic | 0.102 | Stabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
D/E | 0.9482 | likely_pathogenic | 0.8635 | pathogenic | -0.695 | Destabilizing | 0.963 | D | 0.495 | neutral | N | 0.493689775 | None | None | N |
D/F | 0.995 | likely_pathogenic | 0.9843 | pathogenic | -0.52 | Destabilizing | 0.968 | D | 0.783 | deleterious | None | None | None | None | N |
D/G | 0.9232 | likely_pathogenic | 0.7948 | pathogenic | -0.521 | Destabilizing | 0.963 | D | 0.689 | prob.neutral | N | 0.520912291 | None | None | N |
D/H | 0.9656 | likely_pathogenic | 0.9011 | pathogenic | -0.912 | Destabilizing | 0.994 | D | 0.799 | deleterious | N | 0.51093511 | None | None | N |
D/I | 0.9897 | likely_pathogenic | 0.9551 | pathogenic | 0.398 | Stabilizing | 0.983 | D | 0.804 | deleterious | None | None | None | None | N |
D/K | 0.9882 | likely_pathogenic | 0.9637 | pathogenic | 0.005 | Stabilizing | 0.983 | D | 0.799 | deleterious | None | None | None | None | N |
D/L | 0.9854 | likely_pathogenic | 0.9537 | pathogenic | 0.398 | Stabilizing | 0.968 | D | 0.766 | deleterious | None | None | None | None | N |
D/M | 0.994 | likely_pathogenic | 0.9773 | pathogenic | 0.851 | Stabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
D/N | 0.3538 | ambiguous | 0.1993 | benign | -0.257 | Destabilizing | 0.989 | D | 0.745 | deleterious | N | 0.467965424 | None | None | N |
D/P | 0.9912 | likely_pathogenic | 0.9789 | pathogenic | 0.204 | Stabilizing | 0.997 | D | 0.811 | deleterious | None | None | None | None | N |
D/Q | 0.9862 | likely_pathogenic | 0.9535 | pathogenic | -0.19 | Destabilizing | 0.992 | D | 0.784 | deleterious | None | None | None | None | N |
D/R | 0.9884 | likely_pathogenic | 0.9636 | pathogenic | -0.104 | Destabilizing | 0.992 | D | 0.822 | deleterious | None | None | None | None | N |
D/S | 0.7385 | likely_pathogenic | 0.4835 | ambiguous | -0.415 | Destabilizing | 0.983 | D | 0.743 | deleterious | None | None | None | None | N |
D/T | 0.8659 | likely_pathogenic | 0.6551 | pathogenic | -0.204 | Destabilizing | 0.992 | D | 0.794 | deleterious | None | None | None | None | N |
D/V | 0.9724 | likely_pathogenic | 0.8963 | pathogenic | 0.204 | Stabilizing | 0.978 | D | 0.775 | deleterious | N | 0.519644843 | None | None | N |
D/W | 0.9989 | likely_pathogenic | 0.9967 | pathogenic | -0.544 | Destabilizing | 0.998 | D | 0.781 | deleterious | None | None | None | None | N |
D/Y | 0.9602 | likely_pathogenic | 0.8822 | pathogenic | -0.32 | Destabilizing | 0.085 | N | 0.557 | neutral | D | 0.53243318 | 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.