Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4733 | 14422;14423;14424 | chr2:178738256;178738255;178738254 | chr2:179602983;179602982;179602981 |
| N2AB | 4416 | 13471;13472;13473 | chr2:178738256;178738255;178738254 | chr2:179602983;179602982;179602981 |
| N2A | 3489 | 10690;10691;10692 | chr2:178738256;178738255;178738254 | chr2:179602983;179602982;179602981 |
| N2B | 4370 | 13333;13334;13335 | chr2:178738256;178738255;178738254 | chr2:179602983;179602982;179602981 |
| Novex-1 | 4495 | 13708;13709;13710 | chr2:178738256;178738255;178738254 | chr2:179602983;179602982;179602981 |
| Novex-2 | 4562 | 13909;13910;13911 | chr2:178738256;178738255;178738254 | chr2:179602983;179602982;179602981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.837 | 0.912 | 0.838866915185 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -3.17 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/C | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.762873533 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -3.605 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.488 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/F | 0.7536 | likely_pathogenic | 0.7785 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/G | 0.9881 | likely_pathogenic | 0.9854 | pathogenic | -3.398 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.762928912 | None | None | N |
| W/H | 0.9979 | likely_pathogenic | 0.996 | pathogenic | -2.499 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/I | 0.984 | likely_pathogenic | 0.9862 | pathogenic | -2.28 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.515 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/L | 0.9648 | likely_pathogenic | 0.9702 | pathogenic | -2.28 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.762928912 | None | None | N |
| W/M | 0.9943 | likely_pathogenic | 0.9949 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.236 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.607 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.068 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.762873533 | None | None | N |
| W/S | 0.9969 | likely_pathogenic | 0.9956 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.762873533 | None | None | N |
| W/T | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -3.122 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/V | 0.9876 | likely_pathogenic | 0.9885 | pathogenic | -2.607 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/Y | 0.9164 | likely_pathogenic | 0.905 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.81 | 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.