Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15936 | 48031;48032;48033 | chr2:178617189;178617188;178617187 | chr2:179481916;179481915;179481914 |
| N2AB | 14295 | 43108;43109;43110 | chr2:178617189;178617188;178617187 | chr2:179481916;179481915;179481914 |
| N2A | 13368 | 40327;40328;40329 | chr2:178617189;178617188;178617187 | chr2:179481916;179481915;179481914 |
| N2B | 6871 | 20836;20837;20838 | chr2:178617189;178617188;178617187 | chr2:179481916;179481915;179481914 |
| Novex-1 | 6996 | 21211;21212;21213 | chr2:178617189;178617188;178617187 | chr2:179481916;179481915;179481914 |
| Novex-2 | 7063 | 21412;21413;21414 | chr2:178617189;178617188;178617187 | chr2:179481916;179481915;179481914 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | 1.0 | D | 0.83 | 0.746 | 0.754178574707 | gnomAD-4.0.0 | 6.95404E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.09516E-07 | 0 | 0 |
| A/T | rs1401370061  |
-2.039 | 1.0 | D | 0.769 | 0.685 | 0.492611691308 | gnomAD-4.0.0 | 1.65629E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.88035E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8733 | likely_pathogenic | 0.8803 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/D | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -2.976 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/E | 0.9954 | likely_pathogenic | 0.9954 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.809358059 | None | None | N |
| A/F | 0.9899 | likely_pathogenic | 0.991 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/G | 0.5797 | likely_pathogenic | 0.5685 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.604 | neutral | D | 0.682503859 | None | None | N |
| A/H | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/I | 0.9724 | likely_pathogenic | 0.9767 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/K | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/L | 0.9265 | likely_pathogenic | 0.9239 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| A/M | 0.9703 | likely_pathogenic | 0.9731 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/N | 0.9956 | likely_pathogenic | 0.9959 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/P | 0.9852 | likely_pathogenic | 0.9825 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.75421995 | None | None | N |
| A/Q | 0.9905 | likely_pathogenic | 0.9911 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/R | 0.9908 | likely_pathogenic | 0.9907 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/S | 0.4874 | ambiguous | 0.5147 | ambiguous | -2.273 | Highly Destabilizing | 1.0 | D | 0.592 | neutral | D | 0.659331759 | None | None | N |
| A/T | 0.824 | likely_pathogenic | 0.8309 | pathogenic | -1.935 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.738613563 | None | None | N |
| A/V | 0.837 | likely_pathogenic | 0.8562 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.716252993 | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/Y | 0.9964 | likely_pathogenic | 0.9971 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.876 | 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.