Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14187 | 42784;42785;42786 | chr2:178633940;178633939;178633938 | chr2:179498667;179498666;179498665 |
| N2AB | 12546 | 37861;37862;37863 | chr2:178633940;178633939;178633938 | chr2:179498667;179498666;179498665 |
| N2A | 11619 | 35080;35081;35082 | chr2:178633940;178633939;178633938 | chr2:179498667;179498666;179498665 |
| N2B | 5122 | 15589;15590;15591 | chr2:178633940;178633939;178633938 | chr2:179498667;179498666;179498665 |
| Novex-1 | 5247 | 15964;15965;15966 | chr2:178633940;178633939;178633938 | chr2:179498667;179498666;179498665 |
| Novex-2 | 5314 | 16165;16166;16167 | chr2:178633940;178633939;178633938 | chr2:179498667;179498666;179498665 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs755713534  |
-2.242 | 0.997 | D | 0.685 | 0.572 | 0.854271221731 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/G | rs755713534 |
-2.242 | 0.997 | D | 0.685 | 0.572 | 0.854271221731 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| V/I | None | None | 0.987 | N | 0.495 | 0.262 | 0.676633843901 | gnomAD-4.0.0 | 1.36868E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79924E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4217 | ambiguous | 0.4917 | ambiguous | -1.746 | Destabilizing | 0.543 | D | 0.297 | neutral | D | 0.652170966 | None | None | N |
| V/C | 0.8557 | likely_pathogenic | 0.8876 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/D | 0.8664 | likely_pathogenic | 0.9201 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/E | 0.7576 | likely_pathogenic | 0.8399 | pathogenic | -1.608 | Destabilizing | 0.998 | D | 0.731 | prob.delet. | D | 0.655011687 | None | None | N |
| V/F | 0.2411 | likely_benign | 0.2861 | benign | -1.311 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| V/G | 0.6146 | likely_pathogenic | 0.6913 | pathogenic | -2.126 | Highly Destabilizing | 0.997 | D | 0.685 | prob.neutral | D | 0.653688292 | None | None | N |
| V/H | 0.8577 | likely_pathogenic | 0.8967 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/I | 0.0979 | likely_benign | 0.1004 | benign | -0.771 | Destabilizing | 0.987 | D | 0.495 | neutral | N | 0.506930374 | None | None | N |
| V/K | 0.8022 | likely_pathogenic | 0.8696 | pathogenic | -1.421 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| V/L | 0.3479 | ambiguous | 0.4027 | ambiguous | -0.771 | Destabilizing | 0.973 | D | 0.464 | neutral | D | 0.540494932 | None | None | N |
| V/M | 0.2416 | likely_benign | 0.2816 | benign | -0.604 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/N | 0.6971 | likely_pathogenic | 0.7657 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/P | 0.9734 | likely_pathogenic | 0.9861 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| V/Q | 0.7153 | likely_pathogenic | 0.7958 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/R | 0.7221 | likely_pathogenic | 0.819 | pathogenic | -0.974 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| V/S | 0.5621 | ambiguous | 0.6137 | pathogenic | -1.879 | Destabilizing | 0.995 | D | 0.672 | neutral | None | None | None | None | N |
| V/T | 0.4172 | ambiguous | 0.4533 | ambiguous | -1.715 | Destabilizing | 0.992 | D | 0.474 | neutral | None | None | None | None | N |
| V/W | 0.9356 | likely_pathogenic | 0.9587 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| V/Y | 0.6983 | likely_pathogenic | 0.7829 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.764 | 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.