Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23941 | 72046;72047;72048 | chr2:178574311;178574310;178574309 | chr2:179439038;179439037;179439036 |
| N2AB | 22300 | 67123;67124;67125 | chr2:178574311;178574310;178574309 | chr2:179439038;179439037;179439036 |
| N2A | 21373 | 64342;64343;64344 | chr2:178574311;178574310;178574309 | chr2:179439038;179439037;179439036 |
| N2B | 14876 | 44851;44852;44853 | chr2:178574311;178574310;178574309 | chr2:179439038;179439037;179439036 |
| Novex-1 | 15001 | 45226;45227;45228 | chr2:178574311;178574310;178574309 | chr2:179439038;179439037;179439036 |
| Novex-2 | 15068 | 45427;45428;45429 | chr2:178574311;178574310;178574309 | chr2:179439038;179439037;179439036 |
| 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 | rs879251642  |
-0.621 | 0.117 | N | 0.228 | 0.139 | 0.273070737957 | 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/I | rs879251642 |
-0.621 | 0.117 | N | 0.228 | 0.139 | 0.273070737957 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs879251642 |
-0.621 | 0.117 | N | 0.228 | 0.139 | 0.273070737957 | gnomAD-4.0.0 | 4.95845E-06 | None | None | None | None | N | None | 5.3416E-05 | 0 | None | 0 | 4.46648E-05 | None | 0 | 0 | 0 | 1.09813E-05 | 1.60128E-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 | 0.5574 | ambiguous | 0.6437 | pathogenic | -2.343 | Highly Destabilizing | 0.977 | D | 0.591 | neutral | N | 0.462430518 | None | None | N |
| V/C | 0.9372 | likely_pathogenic | 0.9463 | pathogenic | -2.604 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/D | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -3.248 | Highly Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| V/E | 0.9913 | likely_pathogenic | 0.9931 | pathogenic | -2.969 | Highly Destabilizing | 0.999 | D | 0.841 | deleterious | D | 0.538752013 | None | None | N |
| V/F | 0.8491 | likely_pathogenic | 0.8971 | pathogenic | -1.473 | Destabilizing | 0.995 | D | 0.849 | deleterious | None | None | None | None | N |
| V/G | 0.8962 | likely_pathogenic | 0.9165 | pathogenic | -2.943 | Highly Destabilizing | 0.999 | D | 0.841 | deleterious | N | 0.520812342 | None | None | N |
| V/H | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -2.796 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/I | 0.0932 | likely_benign | 0.0986 | benign | -0.624 | Destabilizing | 0.117 | N | 0.228 | neutral | N | 0.47587167 | None | None | N |
| V/K | 0.9943 | likely_pathogenic | 0.9951 | pathogenic | -2.0 | Highly Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | N |
| V/L | 0.558 | ambiguous | 0.62 | pathogenic | -0.624 | Destabilizing | 0.898 | D | 0.578 | neutral | N | 0.464290169 | None | None | N |
| V/M | 0.5127 | ambiguous | 0.5913 | pathogenic | -1.106 | Destabilizing | 0.995 | D | 0.793 | deleterious | None | None | None | None | N |
| V/N | 0.9897 | likely_pathogenic | 0.9919 | pathogenic | -2.588 | Highly Destabilizing | 0.999 | D | 0.886 | deleterious | None | None | None | None | N |
| V/P | 0.9966 | likely_pathogenic | 0.9977 | pathogenic | -1.174 | Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | N |
| V/Q | 0.9892 | likely_pathogenic | 0.9913 | pathogenic | -2.314 | Highly Destabilizing | 0.999 | D | 0.887 | deleterious | None | None | None | None | N |
| V/R | 0.9884 | likely_pathogenic | 0.9905 | pathogenic | -1.984 | Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| V/S | 0.9243 | likely_pathogenic | 0.941 | pathogenic | -3.23 | Highly Destabilizing | 0.998 | D | 0.835 | deleterious | None | None | None | None | N |
| V/T | 0.8231 | likely_pathogenic | 0.8509 | pathogenic | -2.779 | Highly Destabilizing | 0.983 | D | 0.669 | neutral | None | None | None | None | N |
| V/W | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/Y | 0.9885 | likely_pathogenic | 0.9924 | pathogenic | -1.651 | Destabilizing | 0.999 | D | 0.858 | 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.