Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31811 | 95656;95657;95658 | chr2:178545679;178545678;178545677 | chr2:179410406;179410405;179410404 |
| N2AB | 30170 | 90733;90734;90735 | chr2:178545679;178545678;178545677 | chr2:179410406;179410405;179410404 |
| N2A | 29243 | 87952;87953;87954 | chr2:178545679;178545678;178545677 | chr2:179410406;179410405;179410404 |
| N2B | 22746 | 68461;68462;68463 | chr2:178545679;178545678;178545677 | chr2:179410406;179410405;179410404 |
| Novex-1 | 22871 | 68836;68837;68838 | chr2:178545679;178545678;178545677 | chr2:179410406;179410405;179410404 |
| Novex-2 | 22938 | 69037;69038;69039 | chr2:178545679;178545678;178545677 | chr2:179410406;179410405;179410404 |
| 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/A | rs373291051  |
-2.144 | 1.0 | D | 0.789 | 0.698 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs373291051 |
-2.144 | 1.0 | D | 0.789 | 0.698 | None | gnomAD-4.0.0 | 2.73856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7E-06 | 1.15999E-05 | 0 |
| P/S | rs373291051 |
None | 1.0 | D | 0.859 | 0.753 | 0.724769792947 | 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 | rs373291051 |
None | 1.0 | D | 0.859 | 0.753 | 0.724769792947 | gnomAD-4.0.0 | 1.86013E-06 | None | None | None | None | N | None | 1.33608E-05 | 1.66861E-05 | None | 0 | 0 | None | 0 | 0 | 8.48073E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.501 | ambiguous | 0.4864 | ambiguous | -2.076 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.585833122 | None | None | N |
| P/C | 0.8168 | likely_pathogenic | 0.8048 | pathogenic | -2.576 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/D | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -3.195 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/E | 0.9956 | likely_pathogenic | 0.9954 | pathogenic | -3.053 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/F | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/G | 0.9732 | likely_pathogenic | 0.9708 | pathogenic | -2.502 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/H | 0.9952 | likely_pathogenic | 0.9942 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.658177412 | None | None | N |
| P/I | 0.9432 | likely_pathogenic | 0.9459 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| P/K | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.8961 | likely_pathogenic | 0.8827 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.641754442 | None | None | N |
| P/M | 0.977 | likely_pathogenic | 0.9755 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/N | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/Q | 0.9903 | likely_pathogenic | 0.9884 | pathogenic | -2.218 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/R | 0.9919 | likely_pathogenic | 0.9899 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.641956247 | None | None | N |
| P/S | 0.9236 | likely_pathogenic | 0.9264 | pathogenic | -2.735 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.632235692 | None | None | N |
| P/T | 0.8728 | likely_pathogenic | 0.8702 | pathogenic | -2.463 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.641956247 | None | None | N |
| P/V | 0.7882 | likely_pathogenic | 0.7922 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.927 | 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.