Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30426 | 91501;91502;91503 | chr2:178551255;178551254;178551253 | chr2:179415982;179415981;179415980 |
| N2AB | 28785 | 86578;86579;86580 | chr2:178551255;178551254;178551253 | chr2:179415982;179415981;179415980 |
| N2A | 27858 | 83797;83798;83799 | chr2:178551255;178551254;178551253 | chr2:179415982;179415981;179415980 |
| N2B | 21361 | 64306;64307;64308 | chr2:178551255;178551254;178551253 | chr2:179415982;179415981;179415980 |
| Novex-1 | 21486 | 64681;64682;64683 | chr2:178551255;178551254;178551253 | chr2:179415982;179415981;179415980 |
| Novex-2 | 21553 | 64882;64883;64884 | chr2:178551255;178551254;178551253 | chr2:179415982;179415981;179415980 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 1.0 | D | 0.915 | 0.696 | 0.851868548927 | gnomAD-4.0.0 | 6.86899E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.91248E-05 | 0 | 0 | 0 | 0 |
| P/L | rs774454485  |
-0.555 | 1.0 | D | 0.923 | 0.656 | None | gnomAD-2.1.1 | 1.64E-05 | None | None | None | None | N | None | 0 | 1.2012E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs774454485 |
-0.555 | 1.0 | D | 0.923 | 0.656 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs774454485 |
-0.555 | 1.0 | D | 0.923 | 0.656 | None | gnomAD-4.0.0 | 5.59745E-06 | None | None | None | None | N | None | 0 | 1.35962E-04 | None | 0 | 0 | None | 0 | 0 | 8.48618E-07 | 0 | 0 |
| P/S | rs1431006105 |
-2.887 | 1.0 | D | 0.871 | 0.699 | 0.6544015285 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1431006105 |
-2.887 | 1.0 | D | 0.871 | 0.699 | 0.6544015285 | gnomAD-4.0.0 | 3.86971E-06 | None | None | None | None | N | None | 1.69866E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.80022E-06 | 0 | 0 |
| P/T | rs1431006105 |
None | 1.0 | D | 0.867 | 0.645 | 0.783059501854 | gnomAD-4.0.0 | 4.81442E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.60536E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8781 | likely_pathogenic | 0.9119 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.544144421 | None | None | N |
| P/C | 0.9885 | likely_pathogenic | 0.9923 | pathogenic | -2.242 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -3.474 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/E | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -3.301 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.944 | deleterious | None | None | None | None | N |
| P/G | 0.9954 | likely_pathogenic | 0.9967 | pathogenic | -2.613 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| P/H | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.568035574 | None | None | N |
| P/I | 0.9932 | likely_pathogenic | 0.9947 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.95 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/L | 0.9787 | likely_pathogenic | 0.9845 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.548156893 | None | None | N |
| P/M | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/N | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.263 | Highly Destabilizing | 1.0 | D | 0.947 | deleterious | None | None | None | None | N |
| P/Q | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -2.179 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/R | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.949 | deleterious | D | 0.567528595 | None | None | N |
| P/S | 0.9908 | likely_pathogenic | 0.9938 | pathogenic | -2.72 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.54967783 | None | None | N |
| P/T | 0.9865 | likely_pathogenic | 0.9905 | pathogenic | -2.428 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.527521424 | None | None | N |
| P/V | 0.9721 | likely_pathogenic | 0.9776 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.947 | 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.