Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6220 | 18883;18884;18885 | chr2:178729498;178729497;178729496 | chr2:179594225;179594224;179594223 |
| N2AB | 5903 | 17932;17933;17934 | chr2:178729498;178729497;178729496 | chr2:179594225;179594224;179594223 |
| N2A | 4976 | 15151;15152;15153 | chr2:178729498;178729497;178729496 | chr2:179594225;179594224;179594223 |
| 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/G | rs935844203  |
None | 0.98 | N | 0.851 | 0.587 | 0.832549399286 | gnomAD-4.0.0 | 6.84301E-07 | None | None | disulfide | None | N | None | 0 | 2.23714E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | None | None | 0.997 | D | 0.885 | 0.702 | 0.873414085314 | gnomAD-4.0.0 | 1.3686E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 2.52029E-05 | None | 0 | 1.73671E-04 | 0 | 0 | 0 |
| C/S | rs191692293 |
-1.435 | 0.659 | N | 0.624 | 0.563 | 0.615425489776 | gnomAD-2.1.1 | 5.28881E-04 | None | None | disulfide | None | N | None | 5.70531E-03 | 1.98121E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 2.81136E-04 |
| C/S | rs191692293 |
-1.435 | 0.659 | N | 0.624 | 0.563 | 0.615425489776 | gnomAD-3.1.2 | 1.72212E-03 | None | None | disulfide | None | N | None | 6.17582E-03 | 3.93082E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs191692293 |
-1.435 | 0.659 | N | 0.624 | 0.563 | 0.615425489776 | 1000 genomes | 1.99681E-03 | None | None | disulfide | None | N | None | 7.6E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| C/S | rs191692293 |
-1.435 | 0.659 | N | 0.624 | 0.563 | 0.615425489776 | gnomAD-4.0.0 | 6.84301E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9957E-07 | 0 | 0 |
| C/Y | rs191692293 |
None | 0.999 | D | 0.853 | 0.569 | 0.770718413961 | gnomAD-4.0.0 | 6.84301E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9958E-07 | 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 | 0.6842 | likely_pathogenic | 0.6906 | pathogenic | -1.379 | Destabilizing | 0.931 | D | 0.635 | neutral | None | None | disulfide | None | N |
| C/D | 0.9949 | likely_pathogenic | 0.9943 | pathogenic | -1.718 | Destabilizing | 0.996 | D | 0.876 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9971 | likely_pathogenic | 0.9963 | pathogenic | -1.459 | Destabilizing | 0.996 | D | 0.881 | deleterious | None | None | disulfide | None | N |
| C/F | 0.6994 | likely_pathogenic | 0.754 | pathogenic | -0.804 | Destabilizing | 0.999 | D | 0.855 | deleterious | D | 0.531466264 | disulfide | None | N |
| C/G | 0.5409 | ambiguous | 0.4876 | ambiguous | -1.724 | Destabilizing | 0.98 | D | 0.851 | deleterious | N | 0.497232764 | disulfide | None | N |
| C/H | 0.9895 | likely_pathogenic | 0.9893 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | disulfide | None | N |
| C/I | 0.7021 | likely_pathogenic | 0.7691 | pathogenic | -0.433 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -1.048 | Destabilizing | 0.996 | D | 0.87 | deleterious | None | None | disulfide | None | N |
| C/L | 0.74 | likely_pathogenic | 0.76 | pathogenic | -0.433 | Destabilizing | 0.993 | D | 0.753 | deleterious | None | None | disulfide | None | N |
| C/M | 0.8152 | likely_pathogenic | 0.8405 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9733 | likely_pathogenic | 0.9697 | pathogenic | -1.783 | Destabilizing | 0.996 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -0.729 | Destabilizing | 0.999 | D | 0.887 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9934 | likely_pathogenic | 0.9915 | pathogenic | -1.224 | Destabilizing | 0.998 | D | 0.876 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9881 | likely_pathogenic | 0.984 | pathogenic | -1.594 | Destabilizing | 0.997 | D | 0.885 | deleterious | D | 0.549824009 | disulfide | None | N |
| C/S | 0.7559 | likely_pathogenic | 0.7286 | pathogenic | -1.989 | Destabilizing | 0.659 | D | 0.624 | neutral | N | 0.511551584 | disulfide | None | N |
| C/T | 0.7608 | likely_pathogenic | 0.7762 | pathogenic | -1.559 | Destabilizing | 0.985 | D | 0.772 | deleterious | None | None | disulfide | None | N |
| C/V | 0.5311 | ambiguous | 0.6137 | pathogenic | -0.729 | Destabilizing | 0.993 | D | 0.793 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9516 | likely_pathogenic | 0.9603 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.549824009 | disulfide | None | N |
| C/Y | 0.8966 | likely_pathogenic | 0.9142 | pathogenic | -1.055 | Destabilizing | 0.999 | D | 0.853 | deleterious | D | 0.531466264 | 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.