Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28133 | 84622;84623;84624 | chr2:178561735;178561734;178561733 | chr2:179426462;179426461;179426460 |
| N2AB | 26492 | 79699;79700;79701 | chr2:178561735;178561734;178561733 | chr2:179426462;179426461;179426460 |
| N2A | 25565 | 76918;76919;76920 | chr2:178561735;178561734;178561733 | chr2:179426462;179426461;179426460 |
| N2B | 19068 | 57427;57428;57429 | chr2:178561735;178561734;178561733 | chr2:179426462;179426461;179426460 |
| Novex-1 | 19193 | 57802;57803;57804 | chr2:178561735;178561734;178561733 | chr2:179426462;179426461;179426460 |
| Novex-2 | 19260 | 58003;58004;58005 | chr2:178561735;178561734;178561733 | chr2:179426462;179426461;179426460 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs727505053  |
-1.217 | 0.999 | D | 0.575 | 0.538 | 0.379707525713 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.03114E-04 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs727505053 |
-1.217 | 0.999 | D | 0.575 | 0.538 | 0.379707525713 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| N/S | rs727505053 |
-1.217 | 0.999 | D | 0.575 | 0.538 | 0.379707525713 | gnomAD-4.0.0 | 9.92366E-06 | None | None | None | None | N | None | 1.3369E-05 | 0 | None | 0 | 8.93376E-05 | None | 0 | 1.64745E-04 | 0 | 0 | 1.60262E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| N/C | 0.982 | likely_pathogenic | 0.9808 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| N/D | 0.9847 | likely_pathogenic | 0.9871 | pathogenic | -2.177 | Highly Destabilizing | 0.999 | D | 0.593 | neutral | D | 0.547048851 | None | None | N |
| N/E | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.984 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | N |
| N/F | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| N/G | 0.9914 | likely_pathogenic | 0.9912 | pathogenic | -1.348 | Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| N/H | 0.9866 | likely_pathogenic | 0.9882 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.560179583 | None | None | N |
| N/I | 0.996 | likely_pathogenic | 0.9956 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.571789378 | None | None | N |
| N/K | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.552582259 | None | None | N |
| N/L | 0.9905 | likely_pathogenic | 0.9891 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| N/M | 0.994 | likely_pathogenic | 0.994 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| N/P | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/Q | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/R | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/S | 0.9259 | likely_pathogenic | 0.9303 | pathogenic | -1.232 | Destabilizing | 0.999 | D | 0.575 | neutral | D | 0.525461876 | None | None | N |
| N/T | 0.9787 | likely_pathogenic | 0.9775 | pathogenic | -0.879 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | D | 0.52292698 | None | None | N |
| N/V | 0.9961 | likely_pathogenic | 0.9955 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/Y | 0.9923 | likely_pathogenic | 0.9928 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.560179583 | 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.