Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34335 | 103228;103229;103230 | chr2:178533612;178533611;178533610 | chr2:179398339;179398338;179398337 |
| N2AB | 32694 | 98305;98306;98307 | chr2:178533612;178533611;178533610 | chr2:179398339;179398338;179398337 |
| N2A | 31767 | 95524;95525;95526 | chr2:178533612;178533611;178533610 | chr2:179398339;179398338;179398337 |
| N2B | 25270 | 76033;76034;76035 | chr2:178533612;178533611;178533610 | chr2:179398339;179398338;179398337 |
| Novex-1 | 25395 | 76408;76409;76410 | chr2:178533612;178533611;178533610 | chr2:179398339;179398338;179398337 |
| Novex-2 | 25462 | 76609;76610;76611 | chr2:178533612;178533611;178533610 | chr2:179398339;179398338;179398337 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs1485724305  |
-2.962 | 1.0 | D | 0.855 | 0.785 | 0.787264615811 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| A/E | rs1485724305 |
-2.962 | 1.0 | D | 0.855 | 0.785 | 0.787264615811 | gnomAD-4.0.0 | 6.84163E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99413E-07 | 0 | 0 |
| A/G | rs1485724305 |
-2.257 | 1.0 | D | 0.549 | 0.705 | 0.669087604336 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/G | rs1485724305 |
-2.257 | 1.0 | D | 0.549 | 0.705 | 0.669087604336 | gnomAD-4.0.0 | 6.84163E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| A/S | rs1267620209 |
None | 1.0 | D | 0.549 | 0.691 | 0.629801484396 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| A/V | None | None | 1.0 | N | 0.634 | 0.644 | 0.647173900447 | gnomAD-4.0.0 | 6.84163E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65634E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8663 | likely_pathogenic | 0.8899 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/D | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -2.748 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/E | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.639030982 | None | None | N |
| A/F | 0.9854 | likely_pathogenic | 0.9818 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/G | 0.6173 | likely_pathogenic | 0.5609 | ambiguous | -1.806 | Destabilizing | 1.0 | D | 0.549 | neutral | D | 0.565000819 | None | None | N |
| A/H | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -2.065 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/I | 0.9557 | likely_pathogenic | 0.9337 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/L | 0.896 | likely_pathogenic | 0.8785 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/M | 0.9714 | likely_pathogenic | 0.9592 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/N | 0.9971 | likely_pathogenic | 0.9963 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| A/P | 0.9932 | likely_pathogenic | 0.9926 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.639030982 | None | None | N |
| A/Q | 0.9932 | likely_pathogenic | 0.9923 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| A/R | 0.9919 | likely_pathogenic | 0.9916 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/S | 0.6072 | likely_pathogenic | 0.5577 | ambiguous | -2.146 | Highly Destabilizing | 1.0 | D | 0.549 | neutral | D | 0.585229504 | None | None | N |
| A/T | 0.8851 | likely_pathogenic | 0.8241 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.612887458 | None | None | N |
| A/V | 0.8331 | likely_pathogenic | 0.7457 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.634 | neutral | N | 0.501694941 | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.905 | 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.