Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28218 | 84877;84878;84879 | chr2:178561480;178561479;178561478 | chr2:179426207;179426206;179426205 |
| N2AB | 26577 | 79954;79955;79956 | chr2:178561480;178561479;178561478 | chr2:179426207;179426206;179426205 |
| N2A | 25650 | 77173;77174;77175 | chr2:178561480;178561479;178561478 | chr2:179426207;179426206;179426205 |
| N2B | 19153 | 57682;57683;57684 | chr2:178561480;178561479;178561478 | chr2:179426207;179426206;179426205 |
| Novex-1 | 19278 | 58057;58058;58059 | chr2:178561480;178561479;178561478 | chr2:179426207;179426206;179426205 |
| Novex-2 | 19345 | 58258;58259;58260 | chr2:178561480;178561479;178561478 | chr2:179426207;179426206;179426205 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs727504693  |
-0.162 | 0.999 | N | 0.733 | 0.424 | 0.316788114976 | gnomAD-2.1.1 | 4.02E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.11E-05 | 0 |
| G/S | rs727504693 |
-0.162 | 0.999 | N | 0.733 | 0.424 | 0.316788114976 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 1.20616E-04 | 1.31044E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs727504693 |
-0.162 | 0.999 | N | 0.733 | 0.424 | 0.316788114976 | gnomAD-4.0.0 | 1.07213E-04 | None | None | None | None | N | None | 9.34305E-05 | 5.00167E-05 | None | 0 | 0 | None | 0 | 0 | 1.33078E-04 | 2.19602E-05 | 6.4041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.161 | likely_benign | 0.1685 | benign | -0.188 | Destabilizing | 0.991 | D | 0.648 | neutral | N | 0.510346588 | None | None | N |
| G/C | 0.1936 | likely_benign | 0.214 | benign | -0.858 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.534491231 | None | None | N |
| G/D | 0.2318 | likely_benign | 0.2349 | benign | -0.114 | Destabilizing | 0.995 | D | 0.771 | deleterious | N | 0.509536818 | None | None | N |
| G/E | 0.2961 | likely_benign | 0.3008 | benign | -0.252 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
| G/F | 0.551 | ambiguous | 0.5583 | ambiguous | -0.835 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/H | 0.3266 | likely_benign | 0.3325 | benign | -0.424 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/I | 0.3899 | ambiguous | 0.4002 | ambiguous | -0.261 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/K | 0.4765 | ambiguous | 0.4752 | ambiguous | -0.601 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| G/L | 0.4448 | ambiguous | 0.456 | ambiguous | -0.261 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| G/M | 0.4636 | ambiguous | 0.4713 | ambiguous | -0.477 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/N | 0.1921 | likely_benign | 0.2024 | benign | -0.281 | Destabilizing | 0.521 | D | 0.507 | neutral | None | None | None | None | N |
| G/P | 0.8437 | likely_pathogenic | 0.8514 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/Q | 0.326 | likely_benign | 0.3218 | benign | -0.479 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| G/R | 0.3391 | likely_benign | 0.336 | benign | -0.282 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.482620775 | None | None | N |
| G/S | 0.0972 | likely_benign | 0.1002 | benign | -0.501 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | N | 0.48439152 | None | None | N |
| G/T | 0.1894 | likely_benign | 0.1902 | benign | -0.547 | Destabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | N |
| G/V | 0.281 | likely_benign | 0.2912 | benign | -0.203 | Destabilizing | 0.999 | D | 0.785 | deleterious | D | 0.533984252 | None | None | N |
| G/W | 0.4516 | ambiguous | 0.4725 | ambiguous | -1.01 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/Y | 0.4208 | ambiguous | 0.43 | ambiguous | -0.637 | Destabilizing | 1.0 | D | 0.788 | 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.