Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24199 | 72820;72821;72822 | chr2:178573537;178573536;178573535 | chr2:179438264;179438263;179438262 |
| N2AB | 22558 | 67897;67898;67899 | chr2:178573537;178573536;178573535 | chr2:179438264;179438263;179438262 |
| N2A | 21631 | 65116;65117;65118 | chr2:178573537;178573536;178573535 | chr2:179438264;179438263;179438262 |
| N2B | 15134 | 45625;45626;45627 | chr2:178573537;178573536;178573535 | chr2:179438264;179438263;179438262 |
| Novex-1 | 15259 | 46000;46001;46002 | chr2:178573537;178573536;178573535 | chr2:179438264;179438263;179438262 |
| Novex-2 | 15326 | 46201;46202;46203 | chr2:178573537;178573536;178573535 | chr2:179438264;179438263;179438262 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs747720787  |
None | 1.0 | D | 0.873 | 0.637 | 0.718999380018 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31216E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs747720787 |
None | 1.0 | D | 0.873 | 0.637 | 0.718999380018 | gnomAD-4.0.0 | 4.52284E-06 | None | None | None | None | N | None | 0 | 7.52181E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs747720787 |
-1.959 | 1.0 | D | 0.783 | 0.632 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 1.40331E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs747720787 |
-1.959 | 1.0 | D | 0.783 | 0.632 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs781043729 |
-0.93 | 1.0 | D | 0.696 | 0.58 | 0.711210980452 | gnomAD-2.1.1 | 5.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.2E-05 | 0 |
| A/V | rs781043729 |
-0.93 | 1.0 | D | 0.696 | 0.58 | 0.711210980452 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs781043729 |
-0.93 | 1.0 | D | 0.696 | 0.58 | 0.711210980452 | gnomAD-4.0.0 | 4.67714E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.21808E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9292 | likely_pathogenic | 0.9265 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/D | 0.9962 | likely_pathogenic | 0.9973 | pathogenic | -2.864 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.577827582 | None | None | N |
| A/E | 0.9967 | likely_pathogenic | 0.9974 | pathogenic | -2.631 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/F | 0.9946 | likely_pathogenic | 0.9953 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| A/G | 0.1538 | likely_benign | 0.1901 | benign | -2.182 | Highly Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.507105629 | None | None | N |
| A/H | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/I | 0.9912 | likely_pathogenic | 0.9924 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/K | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.536 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/L | 0.9561 | likely_pathogenic | 0.9541 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/M | 0.9792 | likely_pathogenic | 0.9814 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/N | 0.9918 | likely_pathogenic | 0.9932 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/P | 0.7401 | likely_pathogenic | 0.7455 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.554950387 | None | None | N |
| A/Q | 0.9952 | likely_pathogenic | 0.9959 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/R | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -1.616 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/S | 0.4831 | ambiguous | 0.5541 | ambiguous | -2.34 | Highly Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.514294424 | None | None | N |
| A/T | 0.9059 | likely_pathogenic | 0.9357 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.555667494 | None | None | N |
| A/V | 0.9408 | likely_pathogenic | 0.9502 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.557441921 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/Y | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.908 | 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.