Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4679 | 14260;14261;14262 | chr2:178739198;178739197;178739196 | chr2:179603925;179603924;179603923 |
| N2AB | 4362 | 13309;13310;13311 | chr2:178739198;178739197;178739196 | chr2:179603925;179603924;179603923 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4316 | 13171;13172;13173 | chr2:178739198;178739197;178739196 | chr2:179603925;179603924;179603923 |
| Novex-1 | 4441 | 13546;13547;13548 | chr2:178739198;178739197;178739196 | chr2:179603925;179603924;179603923 |
| Novex-2 | 4508 | 13747;13748;13749 | chr2:178739198;178739197;178739196 | chr2:179603925;179603924;179603923 |
| 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 | None | None | 1.0 | D | 0.869 | 0.809 | None | gnomAD-4.0.0 | 9.40304E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.21217E-05 | 0 | 0 |
| A/G | rs2082047521  |
None | 1.0 | D | 0.557 | 0.773 | None | gnomAD-4.0.0 | 7.23311E-07 | None | None | None | None | N | None | 3.22103E-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 | 0.8293 | likely_pathogenic | 0.8717 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/D | 0.9587 | likely_pathogenic | 0.9703 | pathogenic | -2.858 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.786074639 | None | None | N |
| A/E | 0.9497 | likely_pathogenic | 0.9629 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/F | 0.8427 | likely_pathogenic | 0.8854 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/G | 0.2025 | likely_benign | 0.2443 | benign | -1.635 | Destabilizing | 1.0 | D | 0.557 | neutral | D | 0.786840454 | None | None | N |
| A/H | 0.9763 | likely_pathogenic | 0.9834 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/I | 0.656 | likely_pathogenic | 0.7011 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/K | 0.9844 | likely_pathogenic | 0.9895 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/L | 0.6216 | likely_pathogenic | 0.6953 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/M | 0.7321 | likely_pathogenic | 0.8098 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/N | 0.9313 | likely_pathogenic | 0.9552 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/P | 0.9764 | likely_pathogenic | 0.9836 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.749914677 | None | None | N |
| A/Q | 0.956 | likely_pathogenic | 0.9679 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/R | 0.9672 | likely_pathogenic | 0.9749 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/S | 0.2756 | likely_benign | 0.3295 | benign | -1.947 | Destabilizing | 1.0 | D | 0.563 | neutral | D | 0.691760628 | None | None | N |
| A/T | 0.3984 | ambiguous | 0.5211 | ambiguous | -1.748 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.729766718 | None | None | N |
| A/V | 0.3658 | ambiguous | 0.4006 | ambiguous | -0.596 | Destabilizing | 1.0 | D | 0.637 | neutral | D | 0.588972881 | None | None | N |
| A/W | 0.988 | likely_pathogenic | 0.9924 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/Y | 0.9362 | likely_pathogenic | 0.9527 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.879 | 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.