Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26704 | 80335;80336;80337 | chr2:178566022;178566021;178566020 | chr2:179430749;179430748;179430747 |
| N2AB | 25063 | 75412;75413;75414 | chr2:178566022;178566021;178566020 | chr2:179430749;179430748;179430747 |
| N2A | 24136 | 72631;72632;72633 | chr2:178566022;178566021;178566020 | chr2:179430749;179430748;179430747 |
| N2B | 17639 | 53140;53141;53142 | chr2:178566022;178566021;178566020 | chr2:179430749;179430748;179430747 |
| Novex-1 | 17764 | 53515;53516;53517 | chr2:178566022;178566021;178566020 | chr2:179430749;179430748;179430747 |
| Novex-2 | 17831 | 53716;53717;53718 | chr2:178566022;178566021;178566020 | chr2:179430749;179430748;179430747 |
| 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/L | rs780184497  |
-2.631 | 1.0 | D | 0.875 | 0.854 | 0.88135197578 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| W/L | rs780184497 |
-2.631 | 1.0 | D | 0.875 | 0.854 | 0.88135197578 | gnomAD-4.0.0 | 1.59186E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85953E-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 | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -3.385 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/C | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.672214425 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.776 | Highly Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.661 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/F | 0.8161 | likely_pathogenic | 0.8474 | pathogenic | -2.158 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/G | 0.9861 | likely_pathogenic | 0.9856 | pathogenic | -3.613 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.672214425 | None | None | N |
| W/H | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/I | 0.9943 | likely_pathogenic | 0.995 | pathogenic | -2.489 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.62 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/L | 0.9827 | likely_pathogenic | 0.9849 | pathogenic | -2.489 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.671003599 | None | None | N |
| W/M | 0.996 | likely_pathogenic | 0.9967 | pathogenic | -1.851 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.306 | Highly Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.945 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.16 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.932 | deleterious | D | 0.672214425 | None | None | N |
| W/S | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | -3.395 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.672214425 | None | None | N |
| W/T | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -3.205 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/V | 0.9941 | likely_pathogenic | 0.995 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/Y | 0.9717 | likely_pathogenic | 0.9763 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.868 | 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.