Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3179 | 9760;9761;9762 | chr2:178766549;178766548;178766547 | chr2:179631276;179631275;179631274 |
| N2AB | 3179 | 9760;9761;9762 | chr2:178766549;178766548;178766547 | chr2:179631276;179631275;179631274 |
| N2A | 3179 | 9760;9761;9762 | chr2:178766549;178766548;178766547 | chr2:179631276;179631275;179631274 |
| N2B | 3133 | 9622;9623;9624 | chr2:178766549;178766548;178766547 | chr2:179631276;179631275;179631274 |
| Novex-1 | 3133 | 9622;9623;9624 | chr2:178766549;178766548;178766547 | chr2:179631276;179631275;179631274 |
| Novex-2 | 3133 | 9622;9623;9624 | chr2:178766549;178766548;178766547 | chr2:179631276;179631275;179631274 |
| Novex-3 | 3179 | 9760;9761;9762 | chr2:178766549;178766548;178766547 | chr2:179631276;179631275;179631274 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1415326228  |
None | 1.0 | D | 0.83 | 0.887 | 0.911953112043 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs1415326228 |
None | 1.0 | D | 0.83 | 0.887 | 0.911953112043 | gnomAD-4.0.0 | 2.47842E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22856E-05 | None | 0 | 0 | 2.54238E-06 | 0 | 0 |
| W/L | rs1561183313 |
None | 0.999 | D | 0.816 | 0.877 | 0.949931909184 | gnomAD-4.0.0 | 3.18126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.8216E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -2.044 | Highly Destabilizing | 0.992 | D | 0.827 | deleterious | None | None | None | None | N |
| W/C | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.659766587 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.533 | Highly Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/F | 0.7824 | likely_pathogenic | 0.7528 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/G | 0.9904 | likely_pathogenic | 0.9907 | pathogenic | -2.236 | Highly Destabilizing | 0.217 | N | 0.686 | prob.neutral | D | 0.659719553 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/I | 0.9862 | likely_pathogenic | 0.9861 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.011 | Highly Destabilizing | 0.999 | D | 0.856 | deleterious | None | None | None | None | N |
| W/L | 0.9658 | likely_pathogenic | 0.9645 | pathogenic | -1.335 | Destabilizing | 0.999 | D | 0.816 | deleterious | D | 0.659719553 | None | None | N |
| W/M | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.6 | Highly Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.25 | Highly Destabilizing | 0.999 | D | 0.859 | deleterious | D | 0.659766587 | None | None | N |
| W/S | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -2.557 | Highly Destabilizing | 0.997 | D | 0.83 | deleterious | D | 0.659766587 | None | None | N |
| W/T | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -2.387 | Highly Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| W/V | 0.9912 | likely_pathogenic | 0.9903 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/Y | 0.969 | likely_pathogenic | 0.9646 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.752 | 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.