Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16280 | 49063;49064;49065 | chr2:178614676;178614675;178614674 | chr2:179479403;179479402;179479401 |
| N2AB | 14639 | 44140;44141;44142 | chr2:178614676;178614675;178614674 | chr2:179479403;179479402;179479401 |
| N2A | 13712 | 41359;41360;41361 | chr2:178614676;178614675;178614674 | chr2:179479403;179479402;179479401 |
| N2B | 7215 | 21868;21869;21870 | chr2:178614676;178614675;178614674 | chr2:179479403;179479402;179479401 |
| Novex-1 | 7340 | 22243;22244;22245 | chr2:178614676;178614675;178614674 | chr2:179479403;179479402;179479401 |
| Novex-2 | 7407 | 22444;22445;22446 | chr2:178614676;178614675;178614674 | chr2:179479403;179479402;179479401 |
| 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/T | rs372911542  |
-1.589 | 1.0 | D | 0.859 | 0.334 | None | gnomAD-2.1.1 | 4.85E-05 | None | None | None | None | N | None | 0 | 2.03844E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.58E-05 | 1.67001E-04 |
| A/T | rs372911542 |
-1.589 | 1.0 | D | 0.859 | 0.334 | None | gnomAD-3.1.2 | 5.93E-05 | None | None | None | None | N | None | 2.42E-05 | 4.59982E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs372911542 |
-1.589 | 1.0 | D | 0.859 | 0.334 | None | gnomAD-4.0.0 | 3.53571E-05 | None | None | None | None | N | None | 1.3369E-05 | 2.33996E-04 | None | 0 | 2.24427E-05 | None | 0 | 3.29598E-04 | 2.96844E-05 | 0 | 6.41416E-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 | 0.7807 | likely_pathogenic | 0.7977 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.618356941 | None | None | N |
| A/E | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/F | 0.9779 | likely_pathogenic | 0.9785 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| A/G | 0.5953 | likely_pathogenic | 0.5786 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.553801548 | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/I | 0.9108 | likely_pathogenic | 0.9093 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/L | 0.8776 | likely_pathogenic | 0.8781 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| A/M | 0.9407 | likely_pathogenic | 0.9401 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/N | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| A/P | 0.997 | likely_pathogenic | 0.9964 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.618356941 | None | None | N |
| A/Q | 0.9957 | likely_pathogenic | 0.995 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/R | 0.9971 | likely_pathogenic | 0.9966 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/S | 0.617 | likely_pathogenic | 0.5988 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.535999859 | None | None | N |
| A/T | 0.8322 | likely_pathogenic | 0.8172 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.535812096 | None | None | N |
| A/V | 0.6484 | likely_pathogenic | 0.6513 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.444520586 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| A/Y | 0.9956 | likely_pathogenic | 0.9954 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.921 | 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.