Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17694 | 53305;53306;53307 | chr2:178607608;178607607;178607606 | chr2:179472335;179472334;179472333 |
| N2AB | 16053 | 48382;48383;48384 | chr2:178607608;178607607;178607606 | chr2:179472335;179472334;179472333 |
| N2A | 15126 | 45601;45602;45603 | chr2:178607608;178607607;178607606 | chr2:179472335;179472334;179472333 |
| N2B | 8629 | 26110;26111;26112 | chr2:178607608;178607607;178607606 | chr2:179472335;179472334;179472333 |
| Novex-1 | 8754 | 26485;26486;26487 | chr2:178607608;178607607;178607606 | chr2:179472335;179472334;179472333 |
| Novex-2 | 8821 | 26686;26687;26688 | chr2:178607608;178607607;178607606 | chr2:179472335;179472334;179472333 |
| 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/T | None | None | 0.999 | N | 0.831 | 0.354 | 0.338834610459 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.7366 | likely_pathogenic | 0.7641 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| A/D | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -0.926 | Destabilizing | 0.999 | D | 0.886 | deleterious | N | 0.498283407 | None | None | I |
| A/E | 0.9947 | likely_pathogenic | 0.9962 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| A/F | 0.9494 | likely_pathogenic | 0.9584 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| A/G | 0.4536 | ambiguous | 0.4115 | ambiguous | -1.046 | Destabilizing | 0.434 | N | 0.429 | neutral | N | 0.471531871 | None | None | I |
| A/H | 0.996 | likely_pathogenic | 0.9972 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| A/I | 0.817 | likely_pathogenic | 0.8274 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| A/K | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| A/L | 0.7644 | likely_pathogenic | 0.7881 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| A/M | 0.847 | likely_pathogenic | 0.8751 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| A/N | 0.9933 | likely_pathogenic | 0.9946 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| A/P | 0.9937 | likely_pathogenic | 0.9947 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.498283407 | None | None | I |
| A/Q | 0.9902 | likely_pathogenic | 0.9929 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| A/R | 0.9931 | likely_pathogenic | 0.9952 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| A/S | 0.4802 | ambiguous | 0.4849 | ambiguous | -1.13 | Destabilizing | 0.996 | D | 0.703 | prob.neutral | N | 0.486420122 | None | None | I |
| A/T | 0.5786 | likely_pathogenic | 0.603 | pathogenic | -1.018 | Destabilizing | 0.999 | D | 0.831 | deleterious | N | 0.471024892 | None | None | I |
| A/V | 0.4711 | ambiguous | 0.4751 | ambiguous | -0.298 | Destabilizing | 0.999 | D | 0.783 | deleterious | N | 0.477466393 | None | None | I |
| A/W | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| A/Y | 0.9869 | likely_pathogenic | 0.9909 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
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.