Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16368 | 49327;49328;49329 | chr2:178614295;178614294;178614293 | chr2:179479022;179479021;179479020 |
| N2AB | 14727 | 44404;44405;44406 | chr2:178614295;178614294;178614293 | chr2:179479022;179479021;179479020 |
| N2A | 13800 | 41623;41624;41625 | chr2:178614295;178614294;178614293 | chr2:179479022;179479021;179479020 |
| N2B | 7303 | 22132;22133;22134 | chr2:178614295;178614294;178614293 | chr2:179479022;179479021;179479020 |
| Novex-1 | 7428 | 22507;22508;22509 | chr2:178614295;178614294;178614293 | chr2:179479022;179479021;179479020 |
| Novex-2 | 7495 | 22708;22709;22710 | chr2:178614295;178614294;178614293 | chr2:179479022;179479021;179479020 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs747260539  |
-1.13 | 1.0 | D | 0.892 | 0.589 | 0.823553591755 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs747260539 |
-1.13 | 1.0 | D | 0.892 | 0.589 | 0.823553591755 | gnomAD-4.0.0 | 5.47647E-06 | None | None | None | None | N | None | 0 | 6.71652E-05 | None | 0 | 0 | None | 0 | 0 | 4.49894E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7399 | likely_pathogenic | 0.6901 | pathogenic | -1.558 | Destabilizing | 0.998 | D | 0.636 | neutral | None | None | None | None | N |
| C/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| C/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| C/F | 0.8573 | likely_pathogenic | 0.8376 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.530829679 | None | None | N |
| C/G | 0.8481 | likely_pathogenic | 0.8234 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.584713618 | None | None | N |
| C/H | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| C/I | 0.6836 | likely_pathogenic | 0.6495 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| C/L | 0.7555 | likely_pathogenic | 0.7285 | pathogenic | -0.561 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| C/M | 0.8755 | likely_pathogenic | 0.855 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| C/N | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| C/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| C/Q | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| C/R | 0.997 | likely_pathogenic | 0.9965 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.646800831 | None | None | N |
| C/S | 0.8947 | likely_pathogenic | 0.8737 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.542667445 | None | None | N |
| C/T | 0.9129 | likely_pathogenic | 0.9036 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| C/V | 0.4878 | ambiguous | 0.4755 | ambiguous | -0.869 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| C/W | 0.9947 | likely_pathogenic | 0.994 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.646800831 | None | None | N |
| C/Y | 0.9809 | likely_pathogenic | 0.9769 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.525311778 | 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.