Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3060 | 9403;9404;9405 | chr2:178768141;178768140;178768139 | chr2:179632868;179632867;179632866 |
| N2AB | 3060 | 9403;9404;9405 | chr2:178768141;178768140;178768139 | chr2:179632868;179632867;179632866 |
| N2A | 3060 | 9403;9404;9405 | chr2:178768141;178768140;178768139 | chr2:179632868;179632867;179632866 |
| N2B | 3014 | 9265;9266;9267 | chr2:178768141;178768140;178768139 | chr2:179632868;179632867;179632866 |
| Novex-1 | 3014 | 9265;9266;9267 | chr2:178768141;178768140;178768139 | chr2:179632868;179632867;179632866 |
| Novex-2 | 3014 | 9265;9266;9267 | chr2:178768141;178768140;178768139 | chr2:179632868;179632867;179632866 |
| Novex-3 | 3060 | 9403;9404;9405 | chr2:178768141;178768140;178768139 | chr2:179632868;179632867;179632866 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | D | 0.61 | 0.77 | 0.341696514166 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.053 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/C | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.783080501 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.909 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.814 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/G | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.396 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/H | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/I | 0.9527 | likely_pathogenic | 0.931 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.512062918 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/L | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -1.96 | Destabilizing | 0.999 | D | 0.61 | neutral | D | 0.681407363 | None | None | N |
| F/M | 0.9843 | likely_pathogenic | 0.984 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.328 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| F/R | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| F/S | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.493 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.782668343 | None | None | N |
| F/T | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.309 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/V | 0.9786 | likely_pathogenic | 0.9727 | pathogenic | -2.328 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.611301437 | None | None | N |
| F/W | 0.9727 | likely_pathogenic | 0.9728 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/Y | 0.8578 | likely_pathogenic | 0.8589 | pathogenic | -1.136 | Destabilizing | 0.999 | D | 0.574 | neutral | D | 0.724928684 | 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.