Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22576 | 67951;67952;67953 | chr2:178579304;178579303;178579302 | chr2:179444031;179444030;179444029 |
| N2AB | 20935 | 63028;63029;63030 | chr2:178579304;178579303;178579302 | chr2:179444031;179444030;179444029 |
| N2A | 20008 | 60247;60248;60249 | chr2:178579304;178579303;178579302 | chr2:179444031;179444030;179444029 |
| N2B | 13511 | 40756;40757;40758 | chr2:178579304;178579303;178579302 | chr2:179444031;179444030;179444029 |
| Novex-1 | 13636 | 41131;41132;41133 | chr2:178579304;178579303;178579302 | chr2:179444031;179444030;179444029 |
| Novex-2 | 13703 | 41332;41333;41334 | chr2:178579304;178579303;178579302 | chr2:179444031;179444030;179444029 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs751016349  |
-0.505 | 1.0 | D | 0.802 | 0.8 | 0.59800879648 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | I | None | 0 | 8.72E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| G/S | rs751016349 |
-0.505 | 1.0 | D | 0.802 | 0.8 | 0.59800879648 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 0 | 1.31079E-04 | 0 | 0 | 0 | None | 0 | 0 | 7.36E-05 | 0 | 0 |
| G/S | rs751016349 |
-0.505 | 1.0 | D | 0.802 | 0.8 | 0.59800879648 | gnomAD-4.0.0 | 1.67572E-05 | None | None | None | None | I | None | 0 | 8.34613E-05 | None | 0 | 0 | None | 0 | 0 | 1.86715E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7919 | likely_pathogenic | 0.8244 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.553946202 | None | None | I |
| G/C | 0.9794 | likely_pathogenic | 0.9823 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.630721262 | None | None | I |
| G/D | 0.9944 | likely_pathogenic | 0.9947 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.629510437 | None | None | I |
| G/E | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/F | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/I | 0.9962 | likely_pathogenic | 0.9965 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.9963 | likely_pathogenic | 0.9967 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/M | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| G/N | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Q | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/R | 0.9961 | likely_pathogenic | 0.9967 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.630317654 | None | None | I |
| G/S | 0.9356 | likely_pathogenic | 0.9426 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.604406294 | None | None | I |
| G/T | 0.9898 | likely_pathogenic | 0.9912 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/V | 0.9877 | likely_pathogenic | 0.9893 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.630317654 | None | None | I |
| G/W | 0.9962 | likely_pathogenic | 0.9967 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/Y | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
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.