Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20646 | 62161;62162;62163 | chr2:178589789;178589788;178589787 | chr2:179454516;179454515;179454514 |
| N2AB | 19005 | 57238;57239;57240 | chr2:178589789;178589788;178589787 | chr2:179454516;179454515;179454514 |
| N2A | 18078 | 54457;54458;54459 | chr2:178589789;178589788;178589787 | chr2:179454516;179454515;179454514 |
| N2B | 11581 | 34966;34967;34968 | chr2:178589789;178589788;178589787 | chr2:179454516;179454515;179454514 |
| Novex-1 | 11706 | 35341;35342;35343 | chr2:178589789;178589788;178589787 | chr2:179454516;179454515;179454514 |
| Novex-2 | 11773 | 35542;35543;35544 | chr2:178589789;178589788;178589787 | chr2:179454516;179454515;179454514 |
| 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 | rs755455461  |
-2.595 | 0.999 | D | 0.619 | 0.685 | 0.466571191598 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| N/D | rs755455461 |
-2.595 | 0.999 | D | 0.619 | 0.685 | 0.466571191598 | gnomAD-4.0.0 | 4.77525E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57805E-06 | 0 | 0 |
| N/K | None | None | 1.0 | D | 0.763 | 0.617 | 0.365120060079 | gnomAD-4.0.0 | 6.84303E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99582E-07 | 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 | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/C | 0.9911 | likely_pathogenic | 0.9918 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/D | 0.995 | likely_pathogenic | 0.9958 | pathogenic | -2.433 | Highly Destabilizing | 0.999 | D | 0.619 | neutral | D | 0.530919605 | None | None | N |
| N/E | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.277 | Highly Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| N/F | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| N/G | 0.9956 | likely_pathogenic | 0.9967 | pathogenic | -0.538 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| N/H | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.550798287 | None | None | N |
| N/I | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.793 | deleterious | D | 0.551051776 | None | None | N |
| N/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.048 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.549784329 | None | None | N |
| N/L | 0.9956 | likely_pathogenic | 0.9962 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/M | 0.9976 | likely_pathogenic | 0.998 | pathogenic | 0.493 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| N/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| N/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| N/R | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| N/S | 0.9762 | likely_pathogenic | 0.9798 | pathogenic | -0.837 | Destabilizing | 0.999 | D | 0.602 | neutral | D | 0.525132707 | None | None | N |
| N/T | 0.9866 | likely_pathogenic | 0.9886 | pathogenic | -0.549 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | N | 0.491820578 | None | None | N |
| N/V | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/Y | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.809 | deleterious | D | 0.550798287 | 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.