Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29214 | 87865;87866;87867 | chr2:178557714;178557713;178557712 | chr2:179422441;179422440;179422439 |
| N2AB | 27573 | 82942;82943;82944 | chr2:178557714;178557713;178557712 | chr2:179422441;179422440;179422439 |
| N2A | 26646 | 80161;80162;80163 | chr2:178557714;178557713;178557712 | chr2:179422441;179422440;179422439 |
| N2B | 20149 | 60670;60671;60672 | chr2:178557714;178557713;178557712 | chr2:179422441;179422440;179422439 |
| Novex-1 | 20274 | 61045;61046;61047 | chr2:178557714;178557713;178557712 | chr2:179422441;179422440;179422439 |
| Novex-2 | 20341 | 61246;61247;61248 | chr2:178557714;178557713;178557712 | chr2:179422441;179422440;179422439 |
| 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 | None | None | 1.0 | D | 0.827 | 0.649 | 0.709706758388 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9114 | likely_pathogenic | 0.933 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/D | 0.9977 | likely_pathogenic | 0.998 | pathogenic | -2.979 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| A/E | 0.9959 | likely_pathogenic | 0.9962 | pathogenic | -2.755 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.572636568 | None | None | N |
| A/F | 0.9965 | likely_pathogenic | 0.9969 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/G | 0.5543 | ambiguous | 0.5804 | pathogenic | -2.36 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.533768259 | None | None | N |
| A/H | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.18 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/I | 0.9835 | likely_pathogenic | 0.9903 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/K | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/L | 0.9576 | likely_pathogenic | 0.9687 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/M | 0.9723 | likely_pathogenic | 0.9795 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/N | 0.9941 | likely_pathogenic | 0.9956 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/P | 0.9916 | likely_pathogenic | 0.9939 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.554785803 | None | None | N |
| A/Q | 0.9936 | likely_pathogenic | 0.9939 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/R | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/S | 0.3817 | ambiguous | 0.3884 | ambiguous | -2.41 | Highly Destabilizing | 1.0 | D | 0.605 | neutral | N | 0.51412984 | None | None | N |
| A/T | 0.8408 | likely_pathogenic | 0.8846 | pathogenic | -2.082 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.557313336 | None | None | N |
| A/V | 0.8893 | likely_pathogenic | 0.9331 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.547731457 | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/Y | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.868 | 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.