Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17738 | 53437;53438;53439 | chr2:178607476;178607475;178607474 | chr2:179472203;179472202;179472201 |
| N2AB | 16097 | 48514;48515;48516 | chr2:178607476;178607475;178607474 | chr2:179472203;179472202;179472201 |
| N2A | 15170 | 45733;45734;45735 | chr2:178607476;178607475;178607474 | chr2:179472203;179472202;179472201 |
| N2B | 8673 | 26242;26243;26244 | chr2:178607476;178607475;178607474 | chr2:179472203;179472202;179472201 |
| Novex-1 | 8798 | 26617;26618;26619 | chr2:178607476;178607475;178607474 | chr2:179472203;179472202;179472201 |
| Novex-2 | 8865 | 26818;26819;26820 | chr2:178607476;178607475;178607474 | chr2:179472203;179472202;179472201 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs773447539  |
-0.518 | 1.0 | D | 0.773 | 0.889 | 0.675418728564 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/G | rs773447539 |
-0.518 | 1.0 | D | 0.773 | 0.889 | 0.675418728564 | gnomAD-4.0.0 | 6.84395E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99692E-07 | 0 | 0 |
| D/V | rs773447539 |
1.226 | 1.0 | D | 0.834 | 0.889 | 0.923914431233 | gnomAD-2.1.1 | 4.83E-05 | None | None | None | None | N | None | 0 | 2.89805E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/V | rs773447539 |
1.226 | 1.0 | D | 0.834 | 0.889 | 0.923914431233 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 2.62123E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| D/V | rs773447539 |
1.226 | 1.0 | D | 0.834 | 0.889 | 0.923914431233 | gnomAD-4.0.0 | 2.23165E-05 | None | None | None | None | N | None | 0 | 2.83466E-04 | None | 0 | 0 | None | 0 | 0 | 1.35659E-05 | 0 | 4.80615E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9949 | likely_pathogenic | 0.9978 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.624602824 | None | None | N |
| D/C | 0.9945 | likely_pathogenic | 0.9977 | pathogenic | 0.172 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/E | 0.9659 | likely_pathogenic | 0.9809 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.573 | neutral | D | 0.632678584 | None | None | N |
| D/F | 0.9968 | likely_pathogenic | 0.9984 | pathogenic | 0.968 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/G | 0.9932 | likely_pathogenic | 0.9971 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.65034274 | None | None | N |
| D/H | 0.9611 | likely_pathogenic | 0.9781 | pathogenic | 0.569 | Stabilizing | 1.0 | D | 0.822 | deleterious | D | 0.550249414 | None | None | N |
| D/I | 0.998 | likely_pathogenic | 0.9989 | pathogenic | 1.495 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/K | 0.9977 | likely_pathogenic | 0.9987 | pathogenic | -0.03 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/L | 0.9969 | likely_pathogenic | 0.9985 | pathogenic | 1.495 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/M | 0.9987 | likely_pathogenic | 0.9993 | pathogenic | 1.821 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/N | 0.9531 | likely_pathogenic | 0.9717 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.594896467 | None | None | N |
| D/P | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | 1.12 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/Q | 0.9952 | likely_pathogenic | 0.9976 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/R | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | 0.062 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/S | 0.9873 | likely_pathogenic | 0.9937 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/T | 0.9963 | likely_pathogenic | 0.9986 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/V | 0.9939 | likely_pathogenic | 0.997 | pathogenic | 1.12 | Stabilizing | 1.0 | D | 0.834 | deleterious | D | 0.650746348 | None | None | N |
| D/W | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | 1.013 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/Y | 0.9728 | likely_pathogenic | 0.9844 | pathogenic | 1.214 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.634293018 | 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.