Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29185 | 87778;87779;87780 | chr2:178557801;178557800;178557799 | chr2:179422528;179422527;179422526 |
| N2AB | 27544 | 82855;82856;82857 | chr2:178557801;178557800;178557799 | chr2:179422528;179422527;179422526 |
| N2A | 26617 | 80074;80075;80076 | chr2:178557801;178557800;178557799 | chr2:179422528;179422527;179422526 |
| N2B | 20120 | 60583;60584;60585 | chr2:178557801;178557800;178557799 | chr2:179422528;179422527;179422526 |
| Novex-1 | 20245 | 60958;60959;60960 | chr2:178557801;178557800;178557799 | chr2:179422528;179422527;179422526 |
| Novex-2 | 20312 | 61159;61160;61161 | chr2:178557801;178557800;178557799 | chr2:179422528;179422527;179422526 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs775423429  |
-1.061 | 1.0 | D | 0.785 | 0.605 | 0.780090758719 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85786E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9959 | likely_pathogenic | 0.9974 | pathogenic | -3.137 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| W/C | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.518012228 | None | None | N |
| W/D | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| W/E | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| W/F | 0.7794 | likely_pathogenic | 0.7835 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| W/G | 0.9838 | likely_pathogenic | 0.9892 | pathogenic | -3.329 | Highly Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.55320678 | None | None | N |
| W/H | 0.9966 | likely_pathogenic | 0.9973 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/I | 0.9934 | likely_pathogenic | 0.9959 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| W/L | 0.978 | likely_pathogenic | 0.9841 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.522985751 | None | None | N |
| W/M | 0.9946 | likely_pathogenic | 0.9961 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/N | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/P | 0.9968 | likely_pathogenic | 0.9978 | pathogenic | -2.684 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.979 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.54219287 | None | None | N |
| W/S | 0.9903 | likely_pathogenic | 0.9933 | pathogenic | -2.405 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.525187797 | None | None | N |
| W/T | 0.9956 | likely_pathogenic | 0.9972 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/V | 0.9933 | likely_pathogenic | 0.9957 | pathogenic | -2.684 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/Y | 0.9381 | likely_pathogenic | 0.9316 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.613 | neutral | 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.