Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19727 | 59404;59405;59406 | chr2:178592940;178592939;178592938 | chr2:179457667;179457666;179457665 |
| N2AB | 18086 | 54481;54482;54483 | chr2:178592940;178592939;178592938 | chr2:179457667;179457666;179457665 |
| N2A | 17159 | 51700;51701;51702 | chr2:178592940;178592939;178592938 | chr2:179457667;179457666;179457665 |
| N2B | 10662 | 32209;32210;32211 | chr2:178592940;178592939;178592938 | chr2:179457667;179457666;179457665 |
| Novex-1 | 10787 | 32584;32585;32586 | chr2:178592940;178592939;178592938 | chr2:179457667;179457666;179457665 |
| Novex-2 | 10854 | 32785;32786;32787 | chr2:178592940;178592939;178592938 | chr2:179457667;179457666;179457665 |
| 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 | rs759228350  |
-0.879 | 0.999 | D | 0.754 | 0.49 | 0.737854080223 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| W/R | rs759228350 |
-0.879 | 0.999 | D | 0.754 | 0.49 | 0.737854080223 | gnomAD-4.0.0 | 6.84292E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99583E-07 | 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 | 0.991 | likely_pathogenic | 0.993 | pathogenic | -3.006 | Highly Destabilizing | 0.992 | D | 0.613 | neutral | None | None | None | None | N |
| W/C | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -1.195 | Destabilizing | 0.391 | N | 0.372 | neutral | D | 0.547051034 | None | None | N |
| W/D | 0.9962 | likely_pathogenic | 0.9968 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/E | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| W/F | 0.7609 | likely_pathogenic | 0.7383 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.531 | neutral | None | None | None | None | N |
| W/G | 0.9556 | likely_pathogenic | 0.9626 | pathogenic | -3.196 | Highly Destabilizing | 0.998 | D | 0.596 | neutral | D | 0.52818631 | None | None | N |
| W/H | 0.9927 | likely_pathogenic | 0.9935 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| W/I | 0.9865 | likely_pathogenic | 0.9893 | pathogenic | -2.307 | Highly Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| W/K | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/L | 0.9713 | likely_pathogenic | 0.976 | pathogenic | -2.307 | Highly Destabilizing | 0.989 | D | 0.554 | neutral | D | 0.526158394 | None | None | N |
| W/M | 0.9878 | likely_pathogenic | 0.9903 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | N |
| W/N | 0.9951 | likely_pathogenic | 0.9957 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/P | 0.9926 | likely_pathogenic | 0.9944 | pathogenic | -2.558 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/Q | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/R | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -0.985 | Destabilizing | 0.999 | D | 0.754 | deleterious | D | 0.523159881 | None | None | N |
| W/S | 0.9844 | likely_pathogenic | 0.9873 | pathogenic | -2.346 | Highly Destabilizing | 0.998 | D | 0.746 | deleterious | D | 0.527425842 | None | None | N |
| W/T | 0.9911 | likely_pathogenic | 0.9928 | pathogenic | -2.233 | Highly Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| W/V | 0.987 | likely_pathogenic | 0.9898 | pathogenic | -2.558 | Highly Destabilizing | 0.998 | D | 0.736 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8768 | likely_pathogenic | 0.8704 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.504 | 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.