Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24063 | 72412;72413;72414 | chr2:178573945;178573944;178573943 | chr2:179438672;179438671;179438670 |
| N2AB | 22422 | 67489;67490;67491 | chr2:178573945;178573944;178573943 | chr2:179438672;179438671;179438670 |
| N2A | 21495 | 64708;64709;64710 | chr2:178573945;178573944;178573943 | chr2:179438672;179438671;179438670 |
| N2B | 14998 | 45217;45218;45219 | chr2:178573945;178573944;178573943 | chr2:179438672;179438671;179438670 |
| Novex-1 | 15123 | 45592;45593;45594 | chr2:178573945;178573944;178573943 | chr2:179438672;179438671;179438670 |
| Novex-2 | 15190 | 45793;45794;45795 | chr2:178573945;178573944;178573943 | chr2:179438672;179438671;179438670 |
| 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 | rs1377985355  |
None | 1.0 | D | 0.897 | 0.94 | 0.947933090619 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/R | rs1377985355 |
None | 1.0 | D | 0.897 | 0.94 | 0.947933090619 | gnomAD-4.0.0 | 2.47952E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39108E-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 | 0.9949 | likely_pathogenic | 0.995 | pathogenic | -2.695 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/C | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.67752734 | None | None | N |
| W/D | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/F | 0.6526 | likely_pathogenic | 0.6139 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/G | 0.9792 | likely_pathogenic | 0.9795 | pathogenic | -2.967 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.718883009 | None | None | N |
| W/H | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -2.356 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/I | 0.9569 | likely_pathogenic | 0.9524 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.568 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/L | 0.9358 | likely_pathogenic | 0.932 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.702863648 | None | None | N |
| W/M | 0.9879 | likely_pathogenic | 0.9875 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| W/N | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -3.331 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| W/P | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.61 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.719084813 | None | None | N |
| W/S | 0.9956 | likely_pathogenic | 0.9954 | pathogenic | -3.493 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.719084813 | None | None | N |
| W/T | 0.9961 | likely_pathogenic | 0.9959 | pathogenic | -3.268 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/V | 0.979 | likely_pathogenic | 0.9772 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/Y | 0.9076 | likely_pathogenic | 0.8979 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.813 | 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.