Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18474 | 55645;55646;55647 | chr2:178601670;178601669;178601668 | chr2:179466397;179466396;179466395 |
| N2AB | 16833 | 50722;50723;50724 | chr2:178601670;178601669;178601668 | chr2:179466397;179466396;179466395 |
| N2A | 15906 | 47941;47942;47943 | chr2:178601670;178601669;178601668 | chr2:179466397;179466396;179466395 |
| N2B | 9409 | 28450;28451;28452 | chr2:178601670;178601669;178601668 | chr2:179466397;179466396;179466395 |
| Novex-1 | 9534 | 28825;28826;28827 | chr2:178601670;178601669;178601668 | chr2:179466397;179466396;179466395 |
| Novex-2 | 9601 | 29026;29027;29028 | chr2:178601670;178601669;178601668 | chr2:179466397;179466396;179466395 |
| 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/I | rs779583004  |
-0.79 | 0.997 | N | 0.575 | 0.207 | 0.45349784317 | gnomAD-2.1.1 | 1.02594E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.59428E-04 | None | 0 | 0 | 1.78126E-04 |
| V/I | rs779583004 |
-0.79 | 0.997 | N | 0.575 | 0.207 | 0.45349784317 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13907E-04 | 0 |
| V/I | rs779583004 |
-0.79 | 0.997 | N | 0.575 | 0.207 | 0.45349784317 | gnomAD-4.0.0 | 3.7544E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.50877E-07 | 6.42629E-04 | 4.86555E-05 |
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 | 0.9384 | likely_pathogenic | 0.9537 | pathogenic | -2.273 | Highly Destabilizing | 0.999 | D | 0.641 | neutral | N | 0.499910157 | None | None | N |
| V/C | 0.9754 | likely_pathogenic | 0.9746 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/D | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -3.001 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | N | 0.500417136 | None | None | N |
| V/E | 0.9948 | likely_pathogenic | 0.9966 | pathogenic | -2.777 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/F | 0.8794 | likely_pathogenic | 0.9039 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.499149688 | None | None | N |
| V/G | 0.9456 | likely_pathogenic | 0.9627 | pathogenic | -2.82 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.500417136 | None | None | N |
| V/H | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -2.596 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/I | 0.1261 | likely_benign | 0.1322 | benign | -0.731 | Destabilizing | 0.997 | D | 0.575 | neutral | N | 0.511603184 | None | None | N |
| V/K | 0.9957 | likely_pathogenic | 0.9971 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/L | 0.7075 | likely_pathogenic | 0.7299 | pathogenic | -0.731 | Destabilizing | 0.997 | D | 0.654 | neutral | N | 0.488842888 | None | None | N |
| V/M | 0.826 | likely_pathogenic | 0.8511 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/N | 0.9953 | likely_pathogenic | 0.9966 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/P | 0.9951 | likely_pathogenic | 0.9968 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/Q | 0.9937 | likely_pathogenic | 0.9956 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/R | 0.9922 | likely_pathogenic | 0.9944 | pathogenic | -1.724 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| V/S | 0.9885 | likely_pathogenic | 0.9915 | pathogenic | -2.872 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/T | 0.9561 | likely_pathogenic | 0.9662 | pathogenic | -2.51 | Highly Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| V/W | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| V/Y | 0.9923 | likely_pathogenic | 0.9935 | pathogenic | -1.605 | 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.