Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5431 | 16516;16517;16518 | chr2:178732885;178732884;178732883 | chr2:179597612;179597611;179597610 |
| N2AB | 5114 | 15565;15566;15567 | chr2:178732885;178732884;178732883 | chr2:179597612;179597611;179597610 |
| N2A | 4187 | 12784;12785;12786 | chr2:178732885;178732884;178732883 | chr2:179597612;179597611;179597610 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | rs1045107649  |
None | 1.0 | D | 0.873 | 0.839 | 0.877414411994 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | rs1045107649 |
None | 1.0 | D | 0.873 | 0.839 | 0.877414411994 | gnomAD-4.0.0 | 4.33906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93399E-06 | 0 | 0 |
| A/P | rs757710470 |
-0.736 | 1.0 | D | 0.881 | 0.61 | 0.706577926717 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63827E-04 | None | 0 | 0 | 0 |
| A/P | rs757710470 |
-0.736 | 1.0 | D | 0.881 | 0.61 | 0.706577926717 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| A/P | rs757710470 |
-0.736 | 1.0 | D | 0.881 | 0.61 | 0.706577926717 | gnomAD-4.0.0 | 1.4257E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23384E-05 | None | 0 | 0 | 0 | 2.4171E-04 | 0 |
| A/T | None | -1.905 | 0.992 | D | 0.69 | 0.57 | 0.61513531927 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63827E-04 | None | 0 | 0 | 0 |
| A/T | None | -1.905 | 0.992 | D | 0.69 | 0.57 | 0.61513531927 | gnomAD-4.0.0 | 6.1598E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.04423E-04 | 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 | 0.8825 | likely_pathogenic | 0.8854 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/D | 0.9961 | likely_pathogenic | 0.9964 | pathogenic | -2.763 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.650841019 | None | None | N |
| A/E | 0.9911 | likely_pathogenic | 0.9924 | pathogenic | -2.621 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/F | 0.9493 | likely_pathogenic | 0.9519 | pathogenic | -0.944 | Destabilizing | 0.999 | D | 0.894 | deleterious | None | None | None | None | N |
| A/G | 0.4141 | ambiguous | 0.4023 | ambiguous | -1.749 | Destabilizing | 0.996 | D | 0.613 | neutral | D | 0.618166524 | None | None | N |
| A/H | 0.9966 | likely_pathogenic | 0.9968 | pathogenic | -2.004 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/I | 0.7225 | likely_pathogenic | 0.7768 | pathogenic | -0.201 | Destabilizing | 0.988 | D | 0.752 | deleterious | None | None | None | None | N |
| A/K | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.531 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| A/L | 0.7059 | likely_pathogenic | 0.7278 | pathogenic | -0.201 | Destabilizing | 0.988 | D | 0.691 | prob.neutral | None | None | None | None | N |
| A/M | 0.8379 | likely_pathogenic | 0.869 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/N | 0.9908 | likely_pathogenic | 0.9918 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/P | 0.9918 | likely_pathogenic | 0.9915 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.625101103 | None | None | N |
| A/Q | 0.9873 | likely_pathogenic | 0.9884 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/R | 0.9936 | likely_pathogenic | 0.9941 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/S | 0.4734 | ambiguous | 0.5089 | ambiguous | -2.15 | Highly Destabilizing | 0.996 | D | 0.621 | neutral | D | 0.63398408 | None | None | N |
| A/T | 0.6212 | likely_pathogenic | 0.6859 | pathogenic | -1.895 | Destabilizing | 0.992 | D | 0.69 | prob.neutral | D | 0.612655293 | None | None | N |
| A/V | 0.3501 | ambiguous | 0.4194 | ambiguous | -0.533 | Destabilizing | 0.79 | D | 0.405 | neutral | N | 0.513544999 | None | None | N |
| A/W | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/Y | 0.9905 | likely_pathogenic | 0.9906 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.9 | 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.