Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32918 | 98977;98978;98979 | chr2:178539183;178539182;178539181 | chr2:179403910;179403909;179403908 |
| N2AB | 31277 | 94054;94055;94056 | chr2:178539183;178539182;178539181 | chr2:179403910;179403909;179403908 |
| N2A | 30350 | 91273;91274;91275 | chr2:178539183;178539182;178539181 | chr2:179403910;179403909;179403908 |
| N2B | 23853 | 71782;71783;71784 | chr2:178539183;178539182;178539181 | chr2:179403910;179403909;179403908 |
| Novex-1 | 23978 | 72157;72158;72159 | chr2:178539183;178539182;178539181 | chr2:179403910;179403909;179403908 |
| Novex-2 | 24045 | 72358;72359;72360 | chr2:178539183;178539182;178539181 | chr2:179403910;179403909;179403908 |
| 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 | rs1428429290  |
-1.538 | 1.0 | D | 0.792 | 0.627 | 0.851109372804 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 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 | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -2.969 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.660374027 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.232 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.104 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/F | 0.761 | likely_pathogenic | 0.7746 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/G | 0.9907 | likely_pathogenic | 0.9927 | pathogenic | -3.225 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.660374027 | None | None | N |
| W/H | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| W/I | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.481 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/L | 0.9895 | likely_pathogenic | 0.9905 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.659163202 | None | None | N |
| W/M | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.22 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.352 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.006 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.303 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.660374027 | None | None | N |
| W/S | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -3.394 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.660374027 | None | None | N |
| W/T | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -3.19 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/V | 0.9959 | likely_pathogenic | 0.9963 | pathogenic | -2.352 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/Y | 0.9732 | likely_pathogenic | 0.9764 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.863 | 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.