Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20054 | 60385;60386;60387 | chr2:178591659;178591658;178591657 | chr2:179456386;179456385;179456384 |
| N2AB | 18413 | 55462;55463;55464 | chr2:178591659;178591658;178591657 | chr2:179456386;179456385;179456384 |
| N2A | 17486 | 52681;52682;52683 | chr2:178591659;178591658;178591657 | chr2:179456386;179456385;179456384 |
| N2B | 10989 | 33190;33191;33192 | chr2:178591659;178591658;178591657 | chr2:179456386;179456385;179456384 |
| Novex-1 | 11114 | 33565;33566;33567 | chr2:178591659;178591658;178591657 | chr2:179456386;179456385;179456384 |
| Novex-2 | 11181 | 33766;33767;33768 | chr2:178591659;178591658;178591657 | chr2:179456386;179456385;179456384 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1244081106  |
-2.572 | 0.999 | D | 0.629 | 0.71 | 0.41441075005 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| N/D | rs1244081106 |
-2.572 | 0.999 | D | 0.629 | 0.71 | 0.41441075005 | 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 |
| N/D | rs1244081106 |
-2.572 | 0.999 | D | 0.629 | 0.71 | 0.41441075005 | gnomAD-4.0.0 | 6.57557E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47106E-05 | 0 | 0 |
| N/S | None | None | 0.999 | N | 0.611 | 0.579 | 0.336400405673 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| N/C | 0.9912 | likely_pathogenic | 0.9936 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/D | 0.989 | likely_pathogenic | 0.9924 | pathogenic | -2.297 | Highly Destabilizing | 0.999 | D | 0.629 | neutral | D | 0.522384002 | None | None | N |
| N/E | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -2.114 | Highly Destabilizing | 0.999 | D | 0.75 | deleterious | None | None | None | None | N |
| N/F | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| N/G | 0.9923 | likely_pathogenic | 0.9943 | pathogenic | -1.045 | Destabilizing | 0.999 | D | 0.587 | neutral | None | None | None | None | N |
| N/H | 0.9904 | likely_pathogenic | 0.9936 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.541337631 | None | None | N |
| N/I | 0.9967 | likely_pathogenic | 0.9976 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.796 | deleterious | D | 0.54184461 | None | None | N |
| N/K | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.540577163 | None | None | N |
| N/L | 0.994 | likely_pathogenic | 0.9951 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| N/M | 0.995 | likely_pathogenic | 0.9965 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| N/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/Q | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/R | 0.9981 | likely_pathogenic | 0.9988 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/S | 0.9578 | likely_pathogenic | 0.9679 | pathogenic | -1.108 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.507011544 | None | None | N |
| N/T | 0.9803 | likely_pathogenic | 0.9866 | pathogenic | -0.784 | Destabilizing | 0.999 | D | 0.744 | deleterious | N | 0.504272385 | None | None | N |
| N/V | 0.9963 | likely_pathogenic | 0.9974 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| N/Y | 0.9949 | likely_pathogenic | 0.9963 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.541591121 | 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.