Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29720 | 89383;89384;89385 | chr2:178553953;178553952;178553951 | chr2:179418680;179418679;179418678 |
| N2AB | 28079 | 84460;84461;84462 | chr2:178553953;178553952;178553951 | chr2:179418680;179418679;179418678 |
| N2A | 27152 | 81679;81680;81681 | chr2:178553953;178553952;178553951 | chr2:179418680;179418679;179418678 |
| N2B | 20655 | 62188;62189;62190 | chr2:178553953;178553952;178553951 | chr2:179418680;179418679;179418678 |
| Novex-1 | 20780 | 62563;62564;62565 | chr2:178553953;178553952;178553951 | chr2:179418680;179418679;179418678 |
| Novex-2 | 20847 | 62764;62765;62766 | chr2:178553953;178553952;178553951 | chr2:179418680;179418679;179418678 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs555559270  |
-0.701 | 0.973 | D | 0.757 | 0.574 | 0.407632638399 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| S/A | rs555559270 |
-0.701 | 0.973 | D | 0.757 | 0.574 | 0.407632638399 | gnomAD-4.0.0 | 2.74763E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60203E-06 | 0 | 0 |
| S/Y | rs1553543837 |
None | 0.999 | D | 0.903 | 0.632 | 0.832371627952 | gnomAD-4.0.0 | 1.60622E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.99314E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.437 | ambiguous | 0.5093 | ambiguous | -0.84 | Destabilizing | 0.973 | D | 0.757 | deleterious | D | 0.543482404 | None | None | N |
| S/C | 0.315 | likely_benign | 0.4151 | ambiguous | -0.522 | Destabilizing | 0.391 | N | 0.761 | deleterious | D | 0.574463901 | None | None | N |
| S/D | 0.9903 | likely_pathogenic | 0.9924 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| S/E | 0.9937 | likely_pathogenic | 0.9951 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| S/F | 0.9854 | likely_pathogenic | 0.9883 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.892 | deleterious | D | 0.574463901 | None | None | N |
| S/G | 0.3874 | ambiguous | 0.4268 | ambiguous | -1.218 | Destabilizing | 0.996 | D | 0.828 | deleterious | None | None | None | None | N |
| S/H | 0.98 | likely_pathogenic | 0.9849 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| S/I | 0.9366 | likely_pathogenic | 0.9536 | pathogenic | 0.119 | Stabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| S/K | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| S/L | 0.7718 | likely_pathogenic | 0.8092 | pathogenic | 0.119 | Stabilizing | 0.992 | D | 0.876 | deleterious | None | None | None | None | N |
| S/M | 0.9032 | likely_pathogenic | 0.9196 | pathogenic | -0.052 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| S/N | 0.9374 | likely_pathogenic | 0.9509 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/P | 0.9771 | likely_pathogenic | 0.981 | pathogenic | -0.168 | Destabilizing | 0.999 | D | 0.853 | deleterious | D | 0.574210412 | None | None | N |
| S/Q | 0.9869 | likely_pathogenic | 0.9905 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| S/R | 0.9963 | likely_pathogenic | 0.9973 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| S/T | 0.3445 | ambiguous | 0.361 | ambiguous | -0.651 | Destabilizing | 0.994 | D | 0.827 | deleterious | D | 0.528870414 | None | None | N |
| S/V | 0.8771 | likely_pathogenic | 0.9114 | pathogenic | -0.168 | Destabilizing | 0.998 | D | 0.878 | deleterious | None | None | None | None | N |
| S/W | 0.9882 | likely_pathogenic | 0.9907 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| S/Y | 0.983 | likely_pathogenic | 0.987 | pathogenic | -0.328 | Destabilizing | 0.999 | D | 0.903 | deleterious | D | 0.574210412 | 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.