Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28866 | 86821;86822;86823 | chr2:178559536;178559535;178559534 | chr2:179424263;179424262;179424261 |
| N2AB | 27225 | 81898;81899;81900 | chr2:178559536;178559535;178559534 | chr2:179424263;179424262;179424261 |
| N2A | 26298 | 79117;79118;79119 | chr2:178559536;178559535;178559534 | chr2:179424263;179424262;179424261 |
| N2B | 19801 | 59626;59627;59628 | chr2:178559536;178559535;178559534 | chr2:179424263;179424262;179424261 |
| Novex-1 | 19926 | 60001;60002;60003 | chr2:178559536;178559535;178559534 | chr2:179424263;179424262;179424261 |
| Novex-2 | 19993 | 60202;60203;60204 | chr2:178559536;178559535;178559534 | chr2:179424263;179424262;179424261 |
| 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/S | rs779438420  |
-3.301 | 1.0 | D | 0.896 | 0.804 | 0.951749564368 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| W/S | rs779438420 |
-3.301 | 1.0 | D | 0.896 | 0.804 | 0.951749564368 | gnomAD-4.0.0 | 3.18275E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71719E-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 | 0.9964 | likely_pathogenic | 0.9952 | pathogenic | -3.204 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/C | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.649926618 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.472 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.344 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/F | 0.7695 | likely_pathogenic | 0.7402 | pathogenic | -2.0 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/G | 0.9868 | likely_pathogenic | 0.9831 | pathogenic | -3.461 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.649926618 | None | None | N |
| W/H | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -2.565 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/I | 0.9935 | likely_pathogenic | 0.9923 | pathogenic | -2.218 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.529 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/L | 0.9822 | likely_pathogenic | 0.9803 | pathogenic | -2.218 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.648715792 | None | None | N |
| W/M | 0.9948 | likely_pathogenic | 0.9939 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.231 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.578 | Highly Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.043 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.649926618 | None | None | N |
| W/S | 0.9961 | likely_pathogenic | 0.9947 | pathogenic | -3.416 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.649926618 | None | None | N |
| W/T | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -3.208 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/V | 0.9918 | likely_pathogenic | 0.9902 | pathogenic | -2.578 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/Y | 0.971 | likely_pathogenic | 0.9682 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.828 | 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.