Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30603 | 92032;92033;92034 | chr2:178550031;178550030;178550029 | chr2:179414758;179414757;179414756 |
| N2AB | 28962 | 87109;87110;87111 | chr2:178550031;178550030;178550029 | chr2:179414758;179414757;179414756 |
| N2A | 28035 | 84328;84329;84330 | chr2:178550031;178550030;178550029 | chr2:179414758;179414757;179414756 |
| N2B | 21538 | 64837;64838;64839 | chr2:178550031;178550030;178550029 | chr2:179414758;179414757;179414756 |
| Novex-1 | 21663 | 65212;65213;65214 | chr2:178550031;178550030;178550029 | chr2:179414758;179414757;179414756 |
| Novex-2 | 21730 | 65413;65414;65415 | chr2:178550031;178550030;178550029 | chr2:179414758;179414757;179414756 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1698703188  |
None | 1.0 | D | 0.747 | 0.669 | 0.493226133426 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/H | rs1698703188 |
None | 1.0 | D | 0.747 | 0.669 | 0.493226133426 | gnomAD-4.0.0 | 2.56893E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.80381E-06 | 0 | 0 |
| N/K | rs1234224065 |
-0.074 | 1.0 | D | 0.727 | 0.592 | 0.31291088546 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs1234224065 |
-0.074 | 1.0 | D | 0.727 | 0.592 | 0.31291088546 | gnomAD-4.0.0 | 3.19405E-06 | None | None | None | None | I | None | 0 | 4.58232E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs794729533 |
None | 0.999 | N | 0.582 | 0.542 | 0.318540980066 | gnomAD-4.0.0 | 4.11169E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40513E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9811 | likely_pathogenic | 0.9863 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| N/C | 0.918 | likely_pathogenic | 0.9302 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| N/D | 0.9759 | likely_pathogenic | 0.9762 | pathogenic | -0.905 | Destabilizing | 0.999 | D | 0.621 | neutral | D | 0.54090265 | None | None | I |
| N/E | 0.9952 | likely_pathogenic | 0.9954 | pathogenic | -0.901 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | I |
| N/F | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| N/G | 0.9629 | likely_pathogenic | 0.9697 | pathogenic | -0.787 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | I |
| N/H | 0.9601 | likely_pathogenic | 0.9607 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.542170098 | None | None | I |
| N/I | 0.9786 | likely_pathogenic | 0.98 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.542423587 | None | None | I |
| N/K | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.541663118 | None | None | I |
| N/L | 0.9646 | likely_pathogenic | 0.9666 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| N/M | 0.9765 | likely_pathogenic | 0.9791 | pathogenic | 0.633 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| N/P | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| N/Q | 0.9953 | likely_pathogenic | 0.9957 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| N/R | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| N/S | 0.7153 | likely_pathogenic | 0.7607 | pathogenic | -0.464 | Destabilizing | 0.999 | D | 0.582 | neutral | N | 0.486563432 | None | None | I |
| N/T | 0.8709 | likely_pathogenic | 0.8894 | pathogenic | -0.317 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | D | 0.53440819 | None | None | I |
| N/V | 0.9684 | likely_pathogenic | 0.974 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| N/W | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| N/Y | 0.9799 | likely_pathogenic | 0.9782 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.553526403 | None | None | I |
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.