Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33285 | 100078;100079;100080 | chr2:178537354;178537353;178537352 | chr2:179402081;179402080;179402079 |
| N2AB | 31644 | 95155;95156;95157 | chr2:178537354;178537353;178537352 | chr2:179402081;179402080;179402079 |
| N2A | 30717 | 92374;92375;92376 | chr2:178537354;178537353;178537352 | chr2:179402081;179402080;179402079 |
| N2B | 24220 | 72883;72884;72885 | chr2:178537354;178537353;178537352 | chr2:179402081;179402080;179402079 |
| Novex-1 | 24345 | 73258;73259;73260 | chr2:178537354;178537353;178537352 | chr2:179402081;179402080;179402079 |
| Novex-2 | 24412 | 73459;73460;73461 | chr2:178537354;178537353;178537352 | chr2:179402081;179402080;179402079 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | None | None | 1.0 | N | 0.857 | 0.606 | 0.706036002137 | gnomAD-4.0.0 | 1.76837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.1099E-06 | 0 | 0 |
| V/G | rs1173561652  |
-3.377 | 1.0 | N | 0.853 | 0.627 | 0.721836335124 | gnomAD-2.1.1 | 4.93E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.03E-05 | 0 |
| V/G | rs1173561652 |
-3.377 | 1.0 | N | 0.853 | 0.627 | 0.721836335124 | gnomAD-4.0.0 | 1.76837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.1099E-06 | 0 | 0 |
| V/L | None | None | 0.998 | N | 0.667 | 0.305 | 0.376570364461 | gnomAD-4.0.0 | 1.74938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.09155E-06 | 0 | 0 |
| V/M | None | None | 1.0 | N | 0.77 | 0.373 | 0.534572409765 | gnomAD-4.0.0 | 3.49877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.32889E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8091 | likely_pathogenic | 0.8001 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.48690801 | None | None | N |
| V/C | 0.9599 | likely_pathogenic | 0.9654 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| V/D | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -2.994 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/E | 0.9949 | likely_pathogenic | 0.9942 | pathogenic | -2.744 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.487414989 | None | None | N |
| V/F | 0.7456 | likely_pathogenic | 0.768 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/G | 0.9363 | likely_pathogenic | 0.9328 | pathogenic | -2.824 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.487414989 | None | None | N |
| V/H | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -2.599 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/I | 0.11 | likely_benign | 0.124 | benign | -0.664 | Destabilizing | 0.979 | D | 0.561 | neutral | None | None | None | None | N |
| V/K | 0.9957 | likely_pathogenic | 0.9945 | pathogenic | -1.869 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/L | 0.5949 | likely_pathogenic | 0.5996 | pathogenic | -0.664 | Destabilizing | 0.998 | D | 0.667 | neutral | N | 0.498539807 | None | None | N |
| V/M | 0.5711 | likely_pathogenic | 0.5948 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.486401031 | None | None | N |
| V/N | 0.9942 | likely_pathogenic | 0.9942 | pathogenic | -2.296 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/P | 0.9972 | likely_pathogenic | 0.9964 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/Q | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/R | 0.9923 | likely_pathogenic | 0.9905 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/S | 0.9726 | likely_pathogenic | 0.9721 | pathogenic | -2.895 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/T | 0.8508 | likely_pathogenic | 0.8391 | pathogenic | -2.501 | Highly Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/W | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Y | 0.9876 | likely_pathogenic | 0.9882 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.81 | deleterious | 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.