Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32079 | 96460;96461;96462 | chr2:178543909;178543908;178543907 | chr2:179408636;179408635;179408634 |
| N2AB | 30438 | 91537;91538;91539 | chr2:178543909;178543908;178543907 | chr2:179408636;179408635;179408634 |
| N2A | 29511 | 88756;88757;88758 | chr2:178543909;178543908;178543907 | chr2:179408636;179408635;179408634 |
| N2B | 23014 | 69265;69266;69267 | chr2:178543909;178543908;178543907 | chr2:179408636;179408635;179408634 |
| Novex-1 | 23139 | 69640;69641;69642 | chr2:178543909;178543908;178543907 | chr2:179408636;179408635;179408634 |
| Novex-2 | 23206 | 69841;69842;69843 | chr2:178543909;178543908;178543907 | chr2:179408636;179408635;179408634 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1559127150  |
None | 1.0 | D | 0.78 | 0.833 | 0.718191611325 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| D/G | rs1559127150 |
None | 1.0 | D | 0.78 | 0.833 | 0.718191611325 | gnomAD-4.0.0 | 3.18298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71768E-06 | 0 | 0 |
| D/H | rs200540781 |
0.5 | 1.0 | D | 0.819 | 0.633 | None | gnomAD-2.1.1 | 8.21E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 5.13E-05 | None | 3.26819E-04 | None | 1.19923E-04 | 6.25E-05 | 0 |
| D/H | rs200540781 |
0.5 | 1.0 | D | 0.819 | 0.633 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.861E-04 | None | 1.88466E-04 | 0 | 8.82E-05 | 2.07039E-04 | 0 |
| D/H | rs200540781 |
0.5 | 1.0 | D | 0.819 | 0.633 | None | gnomAD-4.0.0 | 5.88735E-05 | None | None | None | None | N | None | 0 | 1.66661E-05 | None | 0 | 2.00624E-04 | None | 1.56235E-04 | 1.65125E-04 | 3.64504E-05 | 3.4039E-04 | 0 |
| D/N | None | -0.581 | 1.0 | D | 0.775 | 0.631 | None | gnomAD-2.1.1 | 1.82021E-04 | None | None | None | None | N | None | 8.27E-05 | 4.24208E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.49891E-04 | 2.80662E-04 |
| D/N | None | -0.581 | 1.0 | D | 0.775 | 0.631 | None | gnomAD-3.1.2 | 2.03853E-04 | None | None | None | None | N | None | 4.83E-05 | 4.58595E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94109E-04 | 0 | 9.56023E-04 |
| D/N | None | -0.581 | 1.0 | D | 0.775 | 0.631 | None | gnomAD-4.0.0 | 3.08644E-04 | None | None | None | None | N | None | 8.0156E-05 | 4.50135E-04 | None | 0 | 0 | None | 0 | 1.64528E-04 | 3.69587E-04 | 5.48992E-05 | 3.6833E-04 |
| D/Y | rs200540781 |
0.975 | 1.0 | D | 0.834 | 0.684 | 0.931670636465 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.991 | likely_pathogenic | 0.9867 | pathogenic | 1.286 | Stabilizing | 1.0 | D | 0.819 | deleterious | D | 0.645497642 | None | None | N |
| D/C | 0.9959 | likely_pathogenic | 0.9933 | pathogenic | 0.967 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/E | 0.9723 | likely_pathogenic | 0.9567 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.6 | neutral | D | 0.634768066 | None | None | N |
| D/F | 0.9978 | likely_pathogenic | 0.9968 | pathogenic | 1.79 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/G | 0.9918 | likely_pathogenic | 0.9875 | pathogenic | 0.795 | Stabilizing | 1.0 | D | 0.78 | deleterious | D | 0.677738169 | None | None | N |
| D/H | 0.9783 | likely_pathogenic | 0.9685 | pathogenic | 1.389 | Stabilizing | 1.0 | D | 0.819 | deleterious | D | 0.610844389 | None | None | N |
| D/I | 0.9977 | likely_pathogenic | 0.9964 | pathogenic | 2.594 | Highly Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/K | 0.9969 | likely_pathogenic | 0.9956 | pathogenic | 0.837 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/L | 0.9949 | likely_pathogenic | 0.9928 | pathogenic | 2.594 | Highly Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/M | 0.9988 | likely_pathogenic | 0.9979 | pathogenic | 2.836 | Highly Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/N | 0.9553 | likely_pathogenic | 0.9358 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.611612322 | None | None | N |
| D/P | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | 2.192 | Highly Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/Q | 0.995 | likely_pathogenic | 0.9918 | pathogenic | 0.331 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/R | 0.9971 | likely_pathogenic | 0.9954 | pathogenic | 0.613 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/S | 0.9758 | likely_pathogenic | 0.9637 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| D/T | 0.9955 | likely_pathogenic | 0.9936 | pathogenic | 0.151 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/V | 0.9929 | likely_pathogenic | 0.9903 | pathogenic | 2.192 | Highly Stabilizing | 1.0 | D | 0.819 | deleterious | D | 0.678141777 | None | None | N |
| D/W | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | 1.586 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/Y | 0.9845 | likely_pathogenic | 0.9771 | pathogenic | 2.044 | Highly Stabilizing | 1.0 | D | 0.834 | deleterious | D | 0.677939973 | 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.