Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27938 | 84037;84038;84039 | chr2:178562320;178562319;178562318 | chr2:179427047;179427046;179427045 |
| N2AB | 26297 | 79114;79115;79116 | chr2:178562320;178562319;178562318 | chr2:179427047;179427046;179427045 |
| N2A | 25370 | 76333;76334;76335 | chr2:178562320;178562319;178562318 | chr2:179427047;179427046;179427045 |
| N2B | 18873 | 56842;56843;56844 | chr2:178562320;178562319;178562318 | chr2:179427047;179427046;179427045 |
| Novex-1 | 18998 | 57217;57218;57219 | chr2:178562320;178562319;178562318 | chr2:179427047;179427046;179427045 |
| Novex-2 | 19065 | 57418;57419;57420 | chr2:178562320;178562319;178562318 | chr2:179427047;179427046;179427045 |
| 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 | rs1369391499  |
None | 1.0 | D | 0.82 | 0.594 | 0.880543544734 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/E | rs1369391499 |
None | 1.0 | D | 0.82 | 0.594 | 0.880543544734 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | N | None | 0 | 6.54965E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs1369391499 |
-2.576 | 0.924 | D | 0.613 | 0.543 | 0.646097377304 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.001E-04 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs1369391499 |
-2.576 | 0.924 | D | 0.613 | 0.543 | 0.646097377304 | gnomAD-4.0.0 | 1.59316E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.77555E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1405100475 |
-2.037 | 0.948 | D | 0.407 | 0.745 | 0.503374072614 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1405100475 |
-2.037 | 0.948 | D | 0.407 | 0.745 | 0.503374072614 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1405100475 |
-2.037 | 0.948 | D | 0.407 | 0.745 | 0.503374072614 | gnomAD-4.0.0 | 3.84754E-06 | None | None | None | None | N | None | 0 | 3.39282E-05 | None | 0 | 0 | None | 0 | 0 | 2.39467E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8566 | likely_pathogenic | 0.906 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/D | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -2.97 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/E | 0.9969 | likely_pathogenic | 0.998 | pathogenic | -2.737 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.6568773 | None | None | N |
| A/F | 0.9941 | likely_pathogenic | 0.9958 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| A/G | 0.617 | likely_pathogenic | 0.7143 | pathogenic | -2.191 | Highly Destabilizing | 0.924 | D | 0.613 | neutral | D | 0.610424728 | None | None | N |
| A/H | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| A/I | 0.9652 | likely_pathogenic | 0.9817 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/L | 0.9218 | likely_pathogenic | 0.9426 | pathogenic | -0.522 | Destabilizing | 0.997 | D | 0.772 | deleterious | None | None | None | None | N |
| A/M | 0.9557 | likely_pathogenic | 0.9731 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/N | 0.9942 | likely_pathogenic | 0.9965 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/P | 0.9736 | likely_pathogenic | 0.9871 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.624434969 | None | None | N |
| A/Q | 0.9944 | likely_pathogenic | 0.996 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/R | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/S | 0.3375 | likely_benign | 0.4182 | ambiguous | -2.315 | Highly Destabilizing | 0.993 | D | 0.601 | neutral | D | 0.559207421 | None | None | N |
| A/T | 0.6586 | likely_pathogenic | 0.766 | pathogenic | -1.973 | Destabilizing | 0.948 | D | 0.407 | neutral | D | 0.61103014 | None | None | N |
| A/V | 0.7839 | likely_pathogenic | 0.8679 | pathogenic | -0.9 | Destabilizing | 0.996 | D | 0.645 | neutral | D | 0.639445309 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/Y | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.915 | 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.