Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32219 | 96880;96881;96882 | chr2:178543318;178543317;178543316 | chr2:179408045;179408044;179408043 |
| N2AB | 30578 | 91957;91958;91959 | chr2:178543318;178543317;178543316 | chr2:179408045;179408044;179408043 |
| N2A | 29651 | 89176;89177;89178 | chr2:178543318;178543317;178543316 | chr2:179408045;179408044;179408043 |
| N2B | 23154 | 69685;69686;69687 | chr2:178543318;178543317;178543316 | chr2:179408045;179408044;179408043 |
| Novex-1 | 23279 | 70060;70061;70062 | chr2:178543318;178543317;178543316 | chr2:179408045;179408044;179408043 |
| Novex-2 | 23346 | 70261;70262;70263 | chr2:178543318;178543317;178543316 | chr2:179408045;179408044;179408043 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1296604161  |
-2.67 | 1.0 | N | 0.635 | 0.442 | 0.589131389434 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/A | rs1296604161 |
-2.67 | 1.0 | N | 0.635 | 0.442 | 0.589131389434 | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85801E-06 | 0 | 0 |
| V/F | rs398124460 |
None | 1.0 | N | 0.857 | 0.411 | 0.735586968849 | gnomAD-4.0.0 | 6.84178E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 0 | 0 |
| V/I | None | None | 0.997 | N | 0.517 | 0.222 | 0.58386771613 | gnomAD-4.0.0 | 4.78925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.25964E-04 | None | 0 | 0 | 1.79889E-06 | 0 | 0 |
| V/L | rs398124460 |
-0.509 | 0.993 | N | 0.623 | 0.29 | 0.481543764896 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs398124460 |
-0.509 | 0.993 | N | 0.623 | 0.29 | 0.481543764896 | gnomAD-4.0.0 | 6.84178E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3881 | ambiguous | 0.3841 | ambiguous | -2.15 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.491604419 | None | None | N |
| V/C | 0.9163 | likely_pathogenic | 0.9157 | pathogenic | -2.133 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/D | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -3.006 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.533246555 | None | None | N |
| V/E | 0.9884 | likely_pathogenic | 0.9899 | pathogenic | -2.711 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| V/F | 0.8467 | likely_pathogenic | 0.8251 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.507999049 | None | None | N |
| V/G | 0.8335 | likely_pathogenic | 0.846 | pathogenic | -2.761 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.509519986 | None | None | N |
| V/H | 0.997 | likely_pathogenic | 0.997 | pathogenic | -2.693 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/I | 0.132 | likely_benign | 0.1179 | benign | -0.399 | Destabilizing | 0.997 | D | 0.517 | neutral | N | 0.5022427 | None | None | N |
| V/K | 0.9923 | likely_pathogenic | 0.9935 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/L | 0.5438 | ambiguous | 0.5078 | ambiguous | -0.399 | Destabilizing | 0.993 | D | 0.623 | neutral | N | 0.511184683 | None | None | N |
| V/M | 0.5303 | ambiguous | 0.5025 | ambiguous | -0.832 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/N | 0.9876 | likely_pathogenic | 0.9886 | pathogenic | -2.347 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/P | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/Q | 0.9852 | likely_pathogenic | 0.9867 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/R | 0.9828 | likely_pathogenic | 0.9855 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/S | 0.8772 | likely_pathogenic | 0.8804 | pathogenic | -2.961 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/T | 0.7263 | likely_pathogenic | 0.7261 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| V/W | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -1.83 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Y | 0.988 | likely_pathogenic | 0.9878 | pathogenic | -1.452 | 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.