Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27073 | 81442;81443;81444 | chr2:178564915;178564914;178564913 | chr2:179429642;179429641;179429640 |
| N2AB | 25432 | 76519;76520;76521 | chr2:178564915;178564914;178564913 | chr2:179429642;179429641;179429640 |
| N2A | 24505 | 73738;73739;73740 | chr2:178564915;178564914;178564913 | chr2:179429642;179429641;179429640 |
| N2B | 18008 | 54247;54248;54249 | chr2:178564915;178564914;178564913 | chr2:179429642;179429641;179429640 |
| Novex-1 | 18133 | 54622;54623;54624 | chr2:178564915;178564914;178564913 | chr2:179429642;179429641;179429640 |
| Novex-2 | 18200 | 54823;54824;54825 | chr2:178564915;178564914;178564913 | chr2:179429642;179429641;179429640 |
| 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/R | None | None | 1.0 | D | 0.82 | 0.527 | 0.671703955995 | gnomAD-4.0.0 | 6.84848E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99841E-07 | 0 | 0 |
| P/S | rs542799302  |
-2.207 | 1.0 | D | 0.789 | 0.516 | 0.565829876908 | gnomAD-2.1.1 | 4.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.97825E-04 | None | 0 | 0 | 0 |
| P/S | rs542799302 |
-2.207 | 1.0 | D | 0.789 | 0.516 | 0.565829876908 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13907E-04 | 0 |
| P/S | rs542799302 |
-2.207 | 1.0 | D | 0.789 | 0.516 | 0.565829876908 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| P/S | rs542799302 |
-2.207 | 1.0 | D | 0.789 | 0.516 | 0.565829876908 | gnomAD-4.0.0 | 2.1707E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54384E-06 | 3.30644E-04 | 3.20564E-05 |
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 | 0.8084 | likely_pathogenic | 0.8352 | pathogenic | -1.649 | Destabilizing | 0.999 | D | 0.803 | deleterious | D | 0.522173874 | None | None | N |
| P/C | 0.9869 | likely_pathogenic | 0.9881 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/D | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -3.145 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/E | 0.9958 | likely_pathogenic | 0.9972 | pathogenic | -3.081 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/G | 0.9876 | likely_pathogenic | 0.9916 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/H | 0.9956 | likely_pathogenic | 0.9971 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.552901882 | None | None | N |
| P/I | 0.9818 | likely_pathogenic | 0.9821 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| P/K | 0.9953 | likely_pathogenic | 0.9968 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/L | 0.9502 | likely_pathogenic | 0.9559 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.550366987 | None | None | N |
| P/M | 0.9924 | likely_pathogenic | 0.9939 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/N | 0.9977 | likely_pathogenic | 0.9985 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/Q | 0.9933 | likely_pathogenic | 0.9956 | pathogenic | -1.9 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/R | 0.9878 | likely_pathogenic | 0.9913 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.552141413 | None | None | N |
| P/S | 0.9829 | likely_pathogenic | 0.9884 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.540531618 | None | None | N |
| P/T | 0.9662 | likely_pathogenic | 0.9753 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.540278129 | None | None | N |
| P/V | 0.9533 | likely_pathogenic | 0.956 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/Y | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.833 | 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.