Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16798 | 50617;50618;50619 | chr2:178611917;178611916;178611915 | chr2:179476644;179476643;179476642 |
| N2AB | 15157 | 45694;45695;45696 | chr2:178611917;178611916;178611915 | chr2:179476644;179476643;179476642 |
| N2A | 14230 | 42913;42914;42915 | chr2:178611917;178611916;178611915 | chr2:179476644;179476643;179476642 |
| N2B | 7733 | 23422;23423;23424 | chr2:178611917;178611916;178611915 | chr2:179476644;179476643;179476642 |
| Novex-1 | 7858 | 23797;23798;23799 | chr2:178611917;178611916;178611915 | chr2:179476644;179476643;179476642 |
| Novex-2 | 7925 | 23998;23999;24000 | chr2:178611917;178611916;178611915 | chr2:179476644;179476643;179476642 |
| 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/G | None | None | 1.0 | D | 0.672 | 0.523 | 0.662534531886 | gnomAD-4.0.0 | 4.78199E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.30626E-05 | 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 | 0.9963 | likely_pathogenic | 0.9976 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/C | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.650444328 | None | None | N |
| W/D | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/F | 0.7809 | likely_pathogenic | 0.8409 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| W/G | 0.9879 | likely_pathogenic | 0.9915 | pathogenic | -3.043 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | D | 0.686381227 | None | None | N |
| W/H | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| W/I | 0.995 | likely_pathogenic | 0.9966 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/L | 0.9822 | likely_pathogenic | 0.9882 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | D | 0.722796415 | None | None | N |
| W/M | 0.995 | likely_pathogenic | 0.9965 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| W/N | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/P | 0.9972 | likely_pathogenic | 0.9986 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.725035844 | None | None | N |
| W/S | 0.9954 | likely_pathogenic | 0.9968 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.683543674 | None | None | N |
| W/T | 0.9965 | likely_pathogenic | 0.9978 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/V | 0.9944 | likely_pathogenic | 0.9961 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/Y | 0.9285 | likely_pathogenic | 0.9514 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.601 | 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.