Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26433 | 79522;79523;79524 | chr2:178566835;178566834;178566833 | chr2:179431562;179431561;179431560 |
| N2AB | 24792 | 74599;74600;74601 | chr2:178566835;178566834;178566833 | chr2:179431562;179431561;179431560 |
| N2A | 23865 | 71818;71819;71820 | chr2:178566835;178566834;178566833 | chr2:179431562;179431561;179431560 |
| N2B | 17368 | 52327;52328;52329 | chr2:178566835;178566834;178566833 | chr2:179431562;179431561;179431560 |
| Novex-1 | 17493 | 52702;52703;52704 | chr2:178566835;178566834;178566833 | chr2:179431562;179431561;179431560 |
| Novex-2 | 17560 | 52903;52904;52905 | chr2:178566835;178566834;178566833 | chr2:179431562;179431561;179431560 |
| 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 | None | None | 1.0 | D | 0.723 | 0.67 | 0.758789248963 | gnomAD-4.0.0 | 1.59222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7784E-05 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -3.073 | Highly Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/C | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.535036392 | None | None | N |
| W/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.014 | Highly Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/F | 0.7686 | likely_pathogenic | 0.7507 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| W/G | 0.99 | likely_pathogenic | 0.9885 | pathogenic | -3.261 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.539048863 | None | None | N |
| W/H | 0.9959 | likely_pathogenic | 0.9948 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| W/I | 0.9975 | likely_pathogenic | 0.9966 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/L | 0.99 | likely_pathogenic | 0.9878 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.537020947 | None | None | N |
| W/M | 0.9968 | likely_pathogenic | 0.9957 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/N | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -2.089 | Highly Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/P | 0.9987 | likely_pathogenic | 0.9979 | pathogenic | -2.63 | Highly Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.556899629 | None | None | N |
| W/S | 0.9954 | likely_pathogenic | 0.9944 | pathogenic | -2.467 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.529894604 | None | None | N |
| W/T | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -2.354 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/V | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -2.63 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9134 | likely_pathogenic | 0.8953 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.599 | 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.