Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9418 | 28477;28478;28479 | chr2:178710845;178710844;178710843 | chr2:179575572;179575571;179575570 |
| N2AB | 9101 | 27526;27527;27528 | chr2:178710845;178710844;178710843 | chr2:179575572;179575571;179575570 |
| N2A | 8174 | 24745;24746;24747 | chr2:178710845;178710844;178710843 | chr2:179575572;179575571;179575570 |
| 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 | rs770276972  |
-1.807 | 1.0 | None | 0.935 | 0.695 | 0.869964133223 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| C/R | rs770276972 |
-1.807 | 1.0 | None | 0.935 | 0.695 | 0.869964133223 | gnomAD-4.0.0 | 7.95532E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.42897E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8491 | likely_pathogenic | 0.9001 | pathogenic | -1.958 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9977 | likely_pathogenic | 0.9986 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | disulfide | None | N |
| C/F | 0.7942 | likely_pathogenic | 0.869 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/G | 0.6549 | likely_pathogenic | 0.7604 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | disulfide | None | N |
| C/H | 0.9945 | likely_pathogenic | 0.997 | pathogenic | -2.421 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8494 | likely_pathogenic | 0.8686 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8587 | likely_pathogenic | 0.8914 | pathogenic | -0.987 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9292 | likely_pathogenic | 0.9506 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9879 | likely_pathogenic | 0.9934 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9966 | likely_pathogenic | 0.9981 | pathogenic | -1.852 | Destabilizing | 1.0 | D | 0.945 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9924 | likely_pathogenic | 0.9953 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | disulfide | None | N |
| C/S | 0.8988 | likely_pathogenic | 0.9374 | pathogenic | -2.644 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | disulfide | None | N |
| C/T | 0.9355 | likely_pathogenic | 0.95 | pathogenic | -2.24 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7795 | likely_pathogenic | 0.7744 | pathogenic | -1.291 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | disulfide | None | N |
| C/W | 0.979 | likely_pathogenic | 0.9872 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | disulfide | None | N |
| C/Y | 0.9449 | likely_pathogenic | 0.9678 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | 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.