Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7630 | 23113;23114;23115 | chr2:178721131;178721130;178721129 | chr2:179585858;179585857;179585856 |
| N2AB | 7313 | 22162;22163;22164 | chr2:178721131;178721130;178721129 | chr2:179585858;179585857;179585856 |
| N2A | 6386 | 19381;19382;19383 | chr2:178721131;178721130;178721129 | chr2:179585858;179585857;179585856 |
| 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 | rs1553908536  |
None | 1.0 | D | 0.925 | 0.688 | 0.892145347143 | gnomAD-4.0.0 | 1.36928E-06 | None | None | disulfide | None | N | None | 0 | 2.23704E-05 | None | 0 | 0 | None | 0 | 0 | 9.00043E-07 | 0 | 0 |
| C/S | rs781175517 |
-2.436 | 1.0 | D | 0.831 | 0.703 | 0.729621422929 | gnomAD-2.1.1 | 4.03E-05 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-05 | 0 |
| C/S | rs781175517 |
-2.436 | 1.0 | D | 0.831 | 0.703 | 0.729621422929 | gnomAD-4.0.0 | 6.84518E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9987E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | D | 0.921 | 0.541 | 0.786383566872 | gnomAD-4.0.0 | 6.84518E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9987E-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 | 0.8343 | likely_pathogenic | 0.8969 | pathogenic | -1.584 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9092 | likely_pathogenic | 0.9281 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.563560171 | disulfide | None | N |
| C/G | 0.4885 | ambiguous | 0.7235 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.895 | deleterious | N | 0.517970365 | disulfide | None | N |
| C/H | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9079 | likely_pathogenic | 0.9367 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8971 | likely_pathogenic | 0.9248 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9433 | likely_pathogenic | 0.9587 | pathogenic | 0.255 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9941 | likely_pathogenic | 0.9962 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.56381366 | disulfide | None | N |
| C/S | 0.9172 | likely_pathogenic | 0.9491 | pathogenic | -2.262 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.545455916 | disulfide | None | N |
| C/T | 0.9365 | likely_pathogenic | 0.9635 | pathogenic | -1.826 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7767 | likely_pathogenic | 0.8426 | pathogenic | -0.888 | Destabilizing | 0.999 | D | 0.808 | deleterious | None | None | disulfide | None | N |
| C/W | 0.993 | likely_pathogenic | 0.9931 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.56381366 | disulfide | None | N |
| C/Y | 0.9779 | likely_pathogenic | 0.9807 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.563560171 | 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.