Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9984 | 30175;30176;30177 | chr2:178704522;178704521;178704520 | chr2:179569249;179569248;179569247 |
| N2AB | 9667 | 29224;29225;29226 | chr2:178704522;178704521;178704520 | chr2:179569249;179569248;179569247 |
| N2A | 8740 | 26443;26444;26445 | chr2:178704522;178704521;178704520 | chr2:179569249;179569248;179569247 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs765561226  |
None | 0.984 | None | 0.549 | 0.333 | 0.472741223727 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/I | rs765561226 |
None | 0.984 | None | 0.549 | 0.333 | 0.472741223727 | gnomAD-4.0.0 | 1.86505E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54916E-06 | 0 | 0 |
| L/R | None | None | 1.0 | None | 0.826 | 0.763 | 0.855125977293 | gnomAD-4.0.0 | 1.61762E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90232E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9882 | likely_pathogenic | 0.9897 | pathogenic | -3.058 | Highly Destabilizing | 0.988 | D | 0.562 | neutral | None | None | None | None | N |
| L/C | 0.9833 | likely_pathogenic | 0.9878 | pathogenic | -2.439 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| L/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.658 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/E | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -3.391 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| L/F | 0.9639 | likely_pathogenic | 0.9671 | pathogenic | -1.799 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| L/G | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | -3.622 | Highly Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| L/H | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| L/I | 0.5349 | ambiguous | 0.5899 | pathogenic | -1.38 | Destabilizing | 0.984 | D | 0.549 | neutral | None | None | None | None | N |
| L/K | 0.9969 | likely_pathogenic | 0.9979 | pathogenic | -2.329 | Highly Destabilizing | 0.999 | D | 0.778 | deleterious | None | None | None | None | N |
| L/M | 0.665 | likely_pathogenic | 0.7004 | pathogenic | -1.518 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| L/N | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -2.863 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| L/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.928 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/Q | 0.9964 | likely_pathogenic | 0.9974 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| L/R | 0.9953 | likely_pathogenic | 0.9966 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| L/S | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -3.507 | Highly Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| L/T | 0.9935 | likely_pathogenic | 0.9948 | pathogenic | -3.094 | Highly Destabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | None | None | N |
| L/V | 0.6374 | likely_pathogenic | 0.6922 | pathogenic | -1.928 | Destabilizing | 0.619 | D | 0.337 | neutral | None | None | None | None | N |
| L/W | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| L/Y | 0.9957 | likely_pathogenic | 0.9963 | pathogenic | -2.04 | Highly Destabilizing | 1.0 | D | 0.816 | 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.