Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29558 | 88897;88898;88899 | chr2:178554675;178554674;178554673 | chr2:179419402;179419401;179419400 |
| N2AB | 27917 | 83974;83975;83976 | chr2:178554675;178554674;178554673 | chr2:179419402;179419401;179419400 |
| N2A | 26990 | 81193;81194;81195 | chr2:178554675;178554674;178554673 | chr2:179419402;179419401;179419400 |
| N2B | 20493 | 61702;61703;61704 | chr2:178554675;178554674;178554673 | chr2:179419402;179419401;179419400 |
| Novex-1 | 20618 | 62077;62078;62079 | chr2:178554675;178554674;178554673 | chr2:179419402;179419401;179419400 |
| Novex-2 | 20685 | 62278;62279;62280 | chr2:178554675;178554674;178554673 | chr2:179419402;179419401;179419400 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1438123245  |
-0.677 | 1.0 | D | 0.897 | 0.597 | 0.737052393128 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 8.26E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1438123245 |
-0.677 | 1.0 | D | 0.897 | 0.597 | 0.737052393128 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1438123245 |
-0.677 | 1.0 | D | 0.897 | 0.597 | 0.737052393128 | gnomAD-4.0.0 | 3.84273E-06 | None | None | None | None | N | None | 5.0734E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4667 | ambiguous | 0.555 | ambiguous | -1.852 | Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.515337019 | None | None | N |
| P/C | 0.9289 | likely_pathogenic | 0.9485 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/D | 0.9902 | likely_pathogenic | 0.9947 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/E | 0.961 | likely_pathogenic | 0.9813 | pathogenic | -2.011 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/F | 0.9948 | likely_pathogenic | 0.9966 | pathogenic | -1.49 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/G | 0.9519 | likely_pathogenic | 0.9679 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/H | 0.9723 | likely_pathogenic | 0.9852 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/I | 0.92 | likely_pathogenic | 0.9391 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/K | 0.9842 | likely_pathogenic | 0.9917 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/L | 0.8256 | likely_pathogenic | 0.8713 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.532680805 | None | None | N |
| P/M | 0.9556 | likely_pathogenic | 0.971 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/N | 0.9876 | likely_pathogenic | 0.9925 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/Q | 0.9498 | likely_pathogenic | 0.9752 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.545976121 | None | None | N |
| P/R | 0.9604 | likely_pathogenic | 0.9794 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.527618377 | None | None | N |
| P/S | 0.8538 | likely_pathogenic | 0.9057 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.488750067 | None | None | N |
| P/T | 0.7803 | likely_pathogenic | 0.853 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.518717607 | None | None | N |
| P/V | 0.772 | likely_pathogenic | 0.8154 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/W | 0.9982 | likely_pathogenic | 0.9992 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/Y | 0.9952 | likely_pathogenic | 0.9975 | pathogenic | -1.49 | Destabilizing | 1.0 | D | 0.887 | 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.