Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8947 | 27064;27065;27066 | chr2:178713295;178713294;178713293 | chr2:179578022;179578021;179578020 |
| N2AB | 8630 | 26113;26114;26115 | chr2:178713295;178713294;178713293 | chr2:179578022;179578021;179578020 |
| N2A | 7703 | 23332;23333;23334 | chr2:178713295;178713294;178713293 | chr2:179578022;179578021;179578020 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | D | 0.937 | 0.721 | 0.845864305578 | gnomAD-4.0.0 | 6.90009E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04863E-07 | 0 | 0 |
| C/S | rs757162312  |
-2.556 | 1.0 | D | 0.842 | 0.696 | 0.769641750319 | gnomAD-2.1.1 | 4.42E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.58E-05 | None | 0 | 0 | 0 |
| C/S | rs757162312 |
-2.556 | 1.0 | D | 0.842 | 0.696 | 0.769641750319 | gnomAD-4.0.0 | 6.90009E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.18717E-05 | 0 |
| C/Y | rs562939601 |
-1.861 | 1.0 | D | 0.937 | 0.595 | 0.795285701735 | gnomAD-3.1.2 | 1.31E-05 | None | None | disulfide | None | N | None | 2.42E-05 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs562939601 |
-1.861 | 1.0 | D | 0.937 | 0.595 | 0.795285701735 | 1000 genomes | 1.99681E-04 | None | None | disulfide | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| C/Y | rs562939601 |
-1.861 | 1.0 | D | 0.937 | 0.595 | 0.795285701735 | gnomAD-4.0.0 | 7.80709E-06 | None | None | disulfide | None | N | None | 1.69199E-05 | 0 | None | 0 | 2.44882E-05 | None | 0 | 0 | 7.2937E-06 | 0 | 2.87274E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9032 | likely_pathogenic | 0.9317 | pathogenic | -1.776 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | disulfide | None | N |
| C/D | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9047 | likely_pathogenic | 0.9413 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.557305974 | disulfide | None | N |
| C/G | 0.7142 | likely_pathogenic | 0.781 | pathogenic | -2.106 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.527845413 | disulfide | None | N |
| C/H | 0.9977 | likely_pathogenic | 0.9986 | pathogenic | -2.33 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9163 | likely_pathogenic | 0.949 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9123 | likely_pathogenic | 0.9357 | pathogenic | -0.883 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9516 | likely_pathogenic | 0.9661 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9925 | likely_pathogenic | 0.9954 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.946 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9958 | likely_pathogenic | 0.9973 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.937 | deleterious | D | 0.546203158 | disulfide | None | N |
| C/S | 0.9279 | likely_pathogenic | 0.9583 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.539201719 | disulfide | None | N |
| C/T | 0.9453 | likely_pathogenic | 0.9648 | pathogenic | -1.915 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8178 | likely_pathogenic | 0.8782 | pathogenic | -1.16 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9881 | likely_pathogenic | 0.9935 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.557559463 | disulfide | None | N |
| C/Y | 0.9702 | likely_pathogenic | 0.9842 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.937 | deleterious | D | 0.545949668 | disulfide | 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.