Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29625 | 89098;89099;89100 | chr2:178554474;178554473;178554472 | chr2:179419201;179419200;179419199 |
| N2AB | 27984 | 84175;84176;84177 | chr2:178554474;178554473;178554472 | chr2:179419201;179419200;179419199 |
| N2A | 27057 | 81394;81395;81396 | chr2:178554474;178554473;178554472 | chr2:179419201;179419200;179419199 |
| N2B | 20560 | 61903;61904;61905 | chr2:178554474;178554473;178554472 | chr2:179419201;179419200;179419199 |
| Novex-1 | 20685 | 62278;62279;62280 | chr2:178554474;178554473;178554472 | chr2:179419201;179419200;179419199 |
| Novex-2 | 20752 | 62479;62480;62481 | chr2:178554474;178554473;178554472 | chr2:179419201;179419200;179419199 |
| 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/A | rs975051057  |
-1.644 | 0.988 | N | 0.544 | 0.32 | 0.5567728319 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 8.92E-06 | 0 |
| V/A | rs975051057 |
-1.644 | 0.988 | N | 0.544 | 0.32 | 0.5567728319 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| V/A | rs975051057 |
-1.644 | 0.988 | N | 0.544 | 0.32 | 0.5567728319 | gnomAD-4.0.0 | 6.40801E-06 | None | None | None | None | N | None | 5.07271E-05 | 0 | None | 0 | 0 | None | 1.56961E-05 | 0 | 2.39341E-06 | 0 | 0 |
| V/I | rs764499992 |
0.143 | 0.756 | N | 0.181 | 0.214 | 0.408036853922 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.55055E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs764499992 |
0.143 | 0.756 | N | 0.181 | 0.214 | 0.408036853922 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85208E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs764499992 |
0.143 | 0.756 | N | 0.181 | 0.214 | 0.408036853922 | gnomAD-4.0.0 | 3.09925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.46927E-05 | None | 0 | 0 | 1.69538E-06 | 0 | 1.60159E-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 | 0.2697 | likely_benign | 0.2785 | benign | -1.439 | Destabilizing | 0.988 | D | 0.544 | neutral | N | 0.500713986 | None | None | N |
| V/C | 0.7723 | likely_pathogenic | 0.7654 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| V/D | 0.9174 | likely_pathogenic | 0.9051 | pathogenic | -1.187 | Destabilizing | 0.999 | D | 0.872 | deleterious | D | 0.532367047 | None | None | N |
| V/E | 0.7485 | likely_pathogenic | 0.7314 | pathogenic | -0.986 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| V/F | 0.3121 | likely_benign | 0.3154 | benign | -0.768 | Destabilizing | 0.999 | D | 0.797 | deleterious | N | 0.497208494 | None | None | N |
| V/G | 0.6572 | likely_pathogenic | 0.6379 | pathogenic | -1.932 | Destabilizing | 0.999 | D | 0.861 | deleterious | D | 0.532113558 | None | None | N |
| V/H | 0.8599 | likely_pathogenic | 0.8515 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/I | 0.0725 | likely_benign | 0.076 | benign | -0.093 | Destabilizing | 0.756 | D | 0.181 | neutral | N | 0.484923589 | None | None | N |
| V/K | 0.7166 | likely_pathogenic | 0.7019 | pathogenic | -1.014 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| V/L | 0.2684 | likely_benign | 0.2697 | benign | -0.093 | Destabilizing | 0.956 | D | 0.518 | neutral | N | 0.501559679 | None | None | N |
| V/M | 0.1607 | likely_benign | 0.166 | benign | -0.251 | Destabilizing | 0.997 | D | 0.635 | neutral | None | None | None | None | N |
| V/N | 0.8046 | likely_pathogenic | 0.7871 | pathogenic | -1.326 | Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | N |
| V/P | 0.9656 | likely_pathogenic | 0.955 | pathogenic | -0.512 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Q | 0.6606 | likely_pathogenic | 0.6527 | pathogenic | -1.132 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| V/R | 0.6581 | likely_pathogenic | 0.6462 | pathogenic | -0.969 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| V/S | 0.5746 | likely_pathogenic | 0.5689 | pathogenic | -2.019 | Highly Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| V/T | 0.239 | likely_benign | 0.2533 | benign | -1.652 | Destabilizing | 0.991 | D | 0.671 | prob.neutral | None | None | None | None | N |
| V/W | 0.94 | likely_pathogenic | 0.9377 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Y | 0.8102 | likely_pathogenic | 0.8012 | pathogenic | -0.691 | Destabilizing | 0.999 | D | 0.789 | 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.