Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31913 | 95962;95963;95964 | chr2:178544492;178544491;178544490 | chr2:179409219;179409218;179409217 |
| N2AB | 30272 | 91039;91040;91041 | chr2:178544492;178544491;178544490 | chr2:179409219;179409218;179409217 |
| N2A | 29345 | 88258;88259;88260 | chr2:178544492;178544491;178544490 | chr2:179409219;179409218;179409217 |
| N2B | 22848 | 68767;68768;68769 | chr2:178544492;178544491;178544490 | chr2:179409219;179409218;179409217 |
| Novex-1 | 22973 | 69142;69143;69144 | chr2:178544492;178544491;178544490 | chr2:179409219;179409218;179409217 |
| Novex-2 | 23040 | 69343;69344;69345 | chr2:178544492;178544491;178544490 | chr2:179409219;179409218;179409217 |
| 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/L | None | None | 1.0 | D | 0.905 | 0.528 | 0.82205374523 | gnomAD-4.0.0 | 1.61585E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92422E-06 | 0 | 0 |
| P/S | rs770922523  |
-2.834 | 1.0 | D | 0.841 | 0.502 | 0.608471955132 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.41363E-04 |
| P/S | rs770922523 |
-2.834 | 1.0 | D | 0.841 | 0.502 | 0.608471955132 | 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 | rs770922523 |
-2.834 | 1.0 | D | 0.841 | 0.502 | 0.608471955132 | gnomAD-4.0.0 | 2.5935E-06 | None | None | None | None | N | None | 1.69612E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.43855E-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 | 0.6589 | likely_pathogenic | 0.6761 | pathogenic | -2.023 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.518963049 | None | None | N |
| P/C | 0.9401 | likely_pathogenic | 0.946 | pathogenic | -2.389 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.318 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/E | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -3.176 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/F | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/G | 0.986 | likely_pathogenic | 0.9846 | pathogenic | -2.443 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/H | 0.9952 | likely_pathogenic | 0.9947 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.562110545 | None | None | N |
| P/I | 0.8957 | likely_pathogenic | 0.9168 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/K | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/L | 0.882 | likely_pathogenic | 0.8692 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.560336119 | None | None | N |
| P/M | 0.9797 | likely_pathogenic | 0.9801 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/N | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -2.131 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/Q | 0.9917 | likely_pathogenic | 0.9911 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/R | 0.9925 | likely_pathogenic | 0.9918 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.561603566 | None | None | N |
| P/S | 0.9561 | likely_pathogenic | 0.9568 | pathogenic | -2.617 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.529927734 | None | None | N |
| P/T | 0.9021 | likely_pathogenic | 0.9165 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.538383977 | None | None | N |
| P/V | 0.7163 | likely_pathogenic | 0.7734 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/Y | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.921 | 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.