Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23044 | 69355;69356;69357 | chr2:178577205;178577204;178577203 | chr2:179441932;179441931;179441930 |
| N2AB | 21403 | 64432;64433;64434 | chr2:178577205;178577204;178577203 | chr2:179441932;179441931;179441930 |
| N2A | 20476 | 61651;61652;61653 | chr2:178577205;178577204;178577203 | chr2:179441932;179441931;179441930 |
| N2B | 13979 | 42160;42161;42162 | chr2:178577205;178577204;178577203 | chr2:179441932;179441931;179441930 |
| Novex-1 | 14104 | 42535;42536;42537 | chr2:178577205;178577204;178577203 | chr2:179441932;179441931;179441930 |
| Novex-2 | 14171 | 42736;42737;42738 | chr2:178577205;178577204;178577203 | chr2:179441932;179441931;179441930 |
| 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/S | rs55980498  |
-2.703 | 0.957 | D | 0.716 | 0.593 | None | gnomAD-2.1.1 | 3.64249E-03 | None | None | None | None | N | None | 1.53133E-03 | 1.92897E-03 | None | 5.81508E-04 | 0 | None | 1.60235E-03 | None | 5.36988E-03 | 5.44195E-03 | 4.09142E-03 |
| P/S | rs55980498 |
-2.703 | 0.957 | D | 0.716 | 0.593 | None | gnomAD-3.1.2 | 3.61627E-03 | None | None | None | None | N | None | 1.3063E-03 | 1.90739E-03 | 0 | 8.65052E-04 | 0 | None | 5.57235E-03 | 3.16456E-03 | 5.66526E-03 | 2.29453E-03 | 3.36215E-03 |
| P/S | rs55980498 |
-2.703 | 0.957 | D | 0.716 | 0.593 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 1.5E-03 | 1.4E-03 | None | None | 0 | 2E-03 | None | None | None | 0 | None |
| P/S | rs55980498 |
-2.703 | 0.957 | D | 0.716 | 0.593 | None | gnomAD-4.0.0 | 5.1505E-03 | None | None | None | None | N | None | 1.21482E-03 | 2.20338E-03 | None | 4.05625E-04 | 2.24065E-05 | None | 5.89634E-03 | 9.91408E-04 | 6.12563E-03 | 1.91158E-03 | 4.62933E-03 |
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 | 0.292 | likely_benign | 0.2447 | benign | -2.169 | Highly Destabilizing | 0.992 | D | 0.809 | deleterious | N | 0.498225447 | None | None | N |
| P/C | 0.7124 | likely_pathogenic | 0.674 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| P/D | 0.9956 | likely_pathogenic | 0.9949 | pathogenic | -3.11 | Highly Destabilizing | 0.999 | D | 0.884 | deleterious | None | None | None | None | N |
| P/E | 0.981 | likely_pathogenic | 0.9776 | pathogenic | -2.968 | Highly Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| P/F | 0.9931 | likely_pathogenic | 0.9915 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.948 | deleterious | None | None | None | None | N |
| P/G | 0.9481 | likely_pathogenic | 0.9349 | pathogenic | -2.619 | Highly Destabilizing | 0.997 | D | 0.879 | deleterious | None | None | None | None | N |
| P/H | 0.9872 | likely_pathogenic | 0.9849 | pathogenic | -2.169 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/I | 0.6422 | likely_pathogenic | 0.5683 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.936 | deleterious | None | None | None | None | N |
| P/K | 0.9927 | likely_pathogenic | 0.992 | pathogenic | -1.838 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| P/L | 0.7229 | likely_pathogenic | 0.6825 | pathogenic | -0.939 | Destabilizing | 0.999 | D | 0.939 | deleterious | D | 0.545852715 | None | None | N |
| P/M | 0.8934 | likely_pathogenic | 0.8727 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| P/N | 0.9906 | likely_pathogenic | 0.9878 | pathogenic | -2.075 | Highly Destabilizing | 0.999 | D | 0.922 | deleterious | None | None | None | None | N |
| P/Q | 0.9719 | likely_pathogenic | 0.9645 | pathogenic | -2.075 | Highly Destabilizing | 0.999 | D | 0.892 | deleterious | N | 0.51734366 | None | None | N |
| P/R | 0.9795 | likely_pathogenic | 0.9772 | pathogenic | -1.481 | Destabilizing | 0.999 | D | 0.925 | deleterious | D | 0.529015907 | None | None | N |
| P/S | 0.8199 | likely_pathogenic | 0.7633 | pathogenic | -2.605 | Highly Destabilizing | 0.957 | D | 0.716 | prob.delet. | D | 0.522192279 | None | None | N |
| P/T | 0.5709 | likely_pathogenic | 0.4728 | ambiguous | -2.342 | Highly Destabilizing | 0.999 | D | 0.85 | deleterious | N | 0.515506782 | None | None | N |
| P/V | 0.3341 | likely_benign | 0.2625 | benign | -1.322 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| P/W | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/Y | 0.997 | likely_pathogenic | 0.996 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.949 | 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.