Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1914 | 5965;5966;5967 | chr2:178776124;178776123;178776122 | chr2:179640851;179640850;179640849 |
| N2AB | 1914 | 5965;5966;5967 | chr2:178776124;178776123;178776122 | chr2:179640851;179640850;179640849 |
| N2A | 1914 | 5965;5966;5967 | chr2:178776124;178776123;178776122 | chr2:179640851;179640850;179640849 |
| N2B | 1868 | 5827;5828;5829 | chr2:178776124;178776123;178776122 | chr2:179640851;179640850;179640849 |
| Novex-1 | 1868 | 5827;5828;5829 | chr2:178776124;178776123;178776122 | chr2:179640851;179640850;179640849 |
| Novex-2 | 1868 | 5827;5828;5829 | chr2:178776124;178776123;178776122 | chr2:179640851;179640850;179640849 |
| Novex-3 | 1914 | 5965;5966;5967 | chr2:178776124;178776123;178776122 | chr2:179640851;179640850;179640849 |
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/T | rs118161093  |
-1.843 | 1.0 | D | 0.745 | 0.692 | None | gnomAD-2.1.1 | 1.38036E-04 | None | None | None | None | N | None | 0 | 2.82E-05 | None | 0 | 1.80542E-03 | None | 0 | None | 0 | 1.55E-05 | 0 |
| A/T | rs118161093 |
-1.843 | 1.0 | D | 0.745 | 0.692 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.73143E-03 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs118161093 |
-1.843 | 1.0 | D | 0.745 | 0.692 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| A/T | rs118161093 |
-1.843 | 1.0 | D | 0.745 | 0.692 | None | gnomAD-4.0.0 | 5.01811E-05 | None | None | None | None | N | None | 1.33241E-05 | 1.66617E-05 | None | 0 | 1.53736E-03 | None | 0 | 0 | 8.47458E-06 | 0 | 0 |
| A/V | rs374203813 |
-0.218 | 1.0 | D | 0.629 | 0.605 | None | gnomAD-2.1.1 | 3.58E-05 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 5.44E-05 | None | 9.8E-05 | None | 0 | 1.76E-05 | 3.26477E-04 |
| A/V | rs374203813 |
-0.218 | 1.0 | D | 0.629 | 0.605 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/V | rs374203813 |
-0.218 | 1.0 | D | 0.629 | 0.605 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| A/V | rs374203813 |
-0.218 | 1.0 | D | 0.629 | 0.605 | None | gnomAD-4.0.0 | 2.29239E-05 | None | None | None | None | N | None | 1.3333E-05 | 1.66661E-05 | None | 0 | 4.45653E-05 | None | 0 | 0 | 1.86442E-05 | 8.78368E-05 | 4.79969E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8453 | likely_pathogenic | 0.8848 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/D | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -2.72 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/E | 0.9984 | likely_pathogenic | 0.9993 | pathogenic | -2.588 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.813237816 | None | None | N |
| A/F | 0.9909 | likely_pathogenic | 0.9937 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/G | 0.6278 | likely_pathogenic | 0.6882 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.561 | neutral | D | 0.720562069 | None | None | N |
| A/H | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.957 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/I | 0.9083 | likely_pathogenic | 0.947 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/L | 0.8998 | likely_pathogenic | 0.9267 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| A/M | 0.9403 | likely_pathogenic | 0.9608 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/N | 0.9986 | likely_pathogenic | 0.9994 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/P | 0.999 | likely_pathogenic | 0.9996 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.813237816 | None | None | N |
| A/Q | 0.9968 | likely_pathogenic | 0.9981 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/R | 0.9981 | likely_pathogenic | 0.9989 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/S | 0.5708 | likely_pathogenic | 0.6934 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.563 | neutral | D | 0.697878854 | None | None | N |
| A/T | 0.7503 | likely_pathogenic | 0.8749 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.742199771 | None | None | N |
| A/V | 0.6355 | likely_pathogenic | 0.7694 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.59905313 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/Y | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.869 | 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.