Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17125 | 51598;51599;51600 | chr2:178610153;178610152;178610151 | chr2:179474880;179474879;179474878 |
| N2AB | 15484 | 46675;46676;46677 | chr2:178610153;178610152;178610151 | chr2:179474880;179474879;179474878 |
| N2A | 14557 | 43894;43895;43896 | chr2:178610153;178610152;178610151 | chr2:179474880;179474879;179474878 |
| N2B | 8060 | 24403;24404;24405 | chr2:178610153;178610152;178610151 | chr2:179474880;179474879;179474878 |
| Novex-1 | 8185 | 24778;24779;24780 | chr2:178610153;178610152;178610151 | chr2:179474880;179474879;179474878 |
| Novex-2 | 8252 | 24979;24980;24981 | chr2:178610153;178610152;178610151 | chr2:179474880;179474879;179474878 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs1463917999  |
-0.643 | 1.0 | D | 0.756 | 0.606 | 0.341226946553 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs1463917999 |
-0.643 | 1.0 | D | 0.756 | 0.606 | 0.341226946553 | gnomAD-4.0.0 | 1.59286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78118E-05 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | None | None | 0.999 | N | 0.586 | 0.601 | 0.266843984389 | gnomAD-4.0.0 | 1.59285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88267E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.995 | likely_pathogenic | 0.9955 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| N/C | 0.9258 | likely_pathogenic | 0.9251 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| N/D | 0.9879 | likely_pathogenic | 0.9902 | pathogenic | -2.157 | Highly Destabilizing | 0.999 | D | 0.609 | neutral | D | 0.527792507 | None | None | N |
| N/E | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.951 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| N/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/G | 0.9809 | likely_pathogenic | 0.9826 | pathogenic | -1.498 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| N/H | 0.9796 | likely_pathogenic | 0.9797 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.556064979 | None | None | N |
| N/I | 0.9964 | likely_pathogenic | 0.9973 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.544797579 | None | None | N |
| N/K | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.536946766 | None | None | N |
| N/L | 0.9813 | likely_pathogenic | 0.9842 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| N/M | 0.9947 | likely_pathogenic | 0.9951 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| N/P | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| N/Q | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/R | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/S | 0.7679 | likely_pathogenic | 0.7701 | pathogenic | -1.395 | Destabilizing | 0.999 | D | 0.586 | neutral | N | 0.503078433 | None | None | N |
| N/T | 0.9518 | likely_pathogenic | 0.9434 | pathogenic | -1.036 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | N | 0.494618509 | None | None | N |
| N/V | 0.9938 | likely_pathogenic | 0.9949 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| N/Y | 0.996 | likely_pathogenic | 0.9967 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.556064979 | 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.