Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8863 | 26812;26813;26814 | chr2:178714071;178714070;178714069 | chr2:179578798;179578797;179578796 |
| N2AB | 8546 | 25861;25862;25863 | chr2:178714071;178714070;178714069 | chr2:179578798;179578797;179578796 |
| N2A | 7619 | 23080;23081;23082 | chr2:178714071;178714070;178714069 | chr2:179578798;179578797;179578796 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1298764368  |
-1.894 | 1.0 | D | 0.835 | 0.935 | 0.945307626599 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| W/R | rs1298764368 |
-1.894 | 1.0 | D | 0.835 | 0.935 | 0.945307626599 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1298764368 |
-1.894 | 1.0 | D | 0.835 | 0.935 | 0.945307626599 | gnomAD-4.0.0 | 1.5917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85879E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9813 | likely_pathogenic | 0.9885 | pathogenic | -2.691 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/C | 0.9896 | likely_pathogenic | 0.9949 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.71444152 | None | None | N |
| W/D | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -3.03 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/E | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -2.894 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/F | 0.6215 | likely_pathogenic | 0.6709 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/G | 0.9553 | likely_pathogenic | 0.9674 | pathogenic | -2.934 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.714239716 | None | None | N |
| W/H | 0.9916 | likely_pathogenic | 0.9935 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| W/I | 0.9128 | likely_pathogenic | 0.9437 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/K | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.868 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| W/L | 0.8452 | likely_pathogenic | 0.9018 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.688701604 | None | None | N |
| W/M | 0.9671 | likely_pathogenic | 0.9797 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/N | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -2.559 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/P | 0.9979 | likely_pathogenic | 0.9986 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/Q | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -2.337 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/R | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -1.902 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.71444152 | None | None | N |
| W/S | 0.9802 | likely_pathogenic | 0.9873 | pathogenic | -2.632 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.71444152 | None | None | N |
| W/T | 0.9873 | likely_pathogenic | 0.9922 | pathogenic | -2.414 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| W/V | 0.936 | likely_pathogenic | 0.9618 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| W/Y | 0.8125 | likely_pathogenic | 0.8277 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.804 | 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.