Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23018 | 69277;69278;69279 | chr2:178577283;178577282;178577281 | chr2:179442010;179442009;179442008 |
| N2AB | 21377 | 64354;64355;64356 | chr2:178577283;178577282;178577281 | chr2:179442010;179442009;179442008 |
| N2A | 20450 | 61573;61574;61575 | chr2:178577283;178577282;178577281 | chr2:179442010;179442009;179442008 |
| N2B | 13953 | 42082;42083;42084 | chr2:178577283;178577282;178577281 | chr2:179442010;179442009;179442008 |
| Novex-1 | 14078 | 42457;42458;42459 | chr2:178577283;178577282;178577281 | chr2:179442010;179442009;179442008 |
| Novex-2 | 14145 | 42658;42659;42660 | chr2:178577283;178577282;178577281 | chr2:179442010;179442009;179442008 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1237834164  |
-1.679 | 1.0 | D | 0.815 | 0.902 | 0.847703497246 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs1237834164 |
-1.679 | 1.0 | D | 0.815 | 0.902 | 0.847703497246 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | N | None | 0 | 2.23694E-05 | None | 0 | 0 | None | 0 | 0 | 8.9963E-07 | 0 | 0 |
| Y/H | rs748860763 |
-2.08 | 1.0 | D | 0.79 | 0.884 | 0.725955644356 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
| Y/H | rs748860763 |
-2.08 | 1.0 | D | 0.79 | 0.884 | 0.725955644356 | gnomAD-4.0.0 | 7.52854E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.47102E-04 | 6.29739E-06 | 2.31895E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/C | 0.9496 | likely_pathogenic | 0.9531 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.650173091 | None | None | N |
| Y/D | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -2.325 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.650173091 | None | None | N |
| Y/E | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/F | 0.2556 | likely_benign | 0.2281 | benign | -0.698 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | D | 0.573196226 | None | None | N |
| Y/G | 0.9932 | likely_pathogenic | 0.9934 | pathogenic | -2.51 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/H | 0.9749 | likely_pathogenic | 0.9769 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.649971286 | None | None | N |
| Y/I | 0.9424 | likely_pathogenic | 0.9354 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| Y/K | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/L | 0.9239 | likely_pathogenic | 0.9241 | pathogenic | -0.578 | Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| Y/M | 0.9732 | likely_pathogenic | 0.9725 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| Y/N | 0.9781 | likely_pathogenic | 0.9822 | pathogenic | -2.636 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.650173091 | None | None | N |
| Y/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/Q | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| Y/R | 0.9963 | likely_pathogenic | 0.9964 | pathogenic | -2.104 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/S | 0.9939 | likely_pathogenic | 0.9947 | pathogenic | -3.056 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.650173091 | None | None | N |
| Y/T | 0.9966 | likely_pathogenic | 0.9968 | pathogenic | -2.658 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/V | 0.9372 | likely_pathogenic | 0.9302 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| Y/W | 0.8611 | likely_pathogenic | 0.8508 | pathogenic | -0.102 | Destabilizing | 1.0 | D | 0.779 | 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.