Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9323 | 28192;28193;28194 | chr2:178711269;178711268;178711267 | chr2:179575996;179575995;179575994 |
| N2AB | 9006 | 27241;27242;27243 | chr2:178711269;178711268;178711267 | chr2:179575996;179575995;179575994 |
| N2A | 8079 | 24460;24461;24462 | chr2:178711269;178711268;178711267 | chr2:179575996;179575995;179575994 |
| 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 | rs2076615457  |
None | 0.055 | None | 0.607 | 0.174 | 0.42130639912 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs2076615457 |
None | 0.055 | None | 0.607 | 0.174 | 0.42130639912 | gnomAD-4.0.0 | 6.57419E-06 | None | None | None | None | N | None | 2.41476E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1313801373 |
None | None | None | 0.203 | 0.057 | 0.0611884634855 | 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/T | rs1313801373 |
None | None | None | 0.203 | 0.057 | 0.0611884634855 | gnomAD-4.0.0 | 3.84383E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18006E-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 | 0.3786 | ambiguous | 0.447 | ambiguous | -1.531 | Destabilizing | 0.676 | D | 0.573 | neutral | None | None | None | None | N |
| A/D | 0.2028 | likely_benign | 0.2457 | benign | -1.915 | Destabilizing | 0.055 | N | 0.607 | neutral | None | None | None | None | N |
| A/E | 0.1605 | likely_benign | 0.1796 | benign | -1.905 | Destabilizing | 0.016 | N | 0.555 | neutral | None | None | None | None | N |
| A/F | 0.2084 | likely_benign | 0.2215 | benign | -1.253 | Destabilizing | 0.356 | N | 0.641 | neutral | None | None | None | None | N |
| A/G | 0.1011 | likely_benign | 0.1045 | benign | -1.371 | Destabilizing | None | N | 0.161 | neutral | None | None | None | None | N |
| A/H | 0.2167 | likely_benign | 0.2782 | benign | -1.429 | Destabilizing | 0.356 | N | 0.617 | neutral | None | None | None | None | N |
| A/I | 0.1676 | likely_benign | 0.1933 | benign | -0.472 | Destabilizing | 0.12 | N | 0.661 | neutral | None | None | None | None | N |
| A/K | 0.2058 | likely_benign | 0.2658 | benign | -1.231 | Destabilizing | 0.016 | N | 0.555 | neutral | None | None | None | None | N |
| A/L | 0.1144 | likely_benign | 0.129 | benign | -0.472 | Destabilizing | 0.016 | N | 0.559 | neutral | None | None | None | None | N |
| A/M | 0.1841 | likely_benign | 0.1914 | benign | -0.577 | Destabilizing | 0.356 | N | 0.61 | neutral | None | None | None | None | N |
| A/N | 0.1551 | likely_benign | 0.1783 | benign | -1.2 | Destabilizing | 0.038 | N | 0.606 | neutral | None | None | None | None | N |
| A/P | 0.3008 | likely_benign | 0.4525 | ambiguous | -0.641 | Destabilizing | 0.106 | N | 0.658 | neutral | None | None | None | None | N |
| A/Q | 0.1556 | likely_benign | 0.1963 | benign | -1.366 | Destabilizing | 0.001 | N | 0.503 | neutral | None | None | None | None | N |
| A/R | 0.1537 | likely_benign | 0.2024 | benign | -0.933 | Destabilizing | None | N | 0.339 | neutral | None | None | None | None | N |
| A/S | 0.0821 | likely_benign | 0.0861 | benign | -1.58 | Destabilizing | None | N | 0.191 | neutral | None | None | None | None | N |
| A/T | 0.0807 | likely_benign | 0.0839 | benign | -1.473 | Destabilizing | None | N | 0.203 | neutral | None | None | None | None | N |
| A/V | 0.103 | likely_benign | 0.1138 | benign | -0.641 | Destabilizing | 0.029 | N | 0.473 | neutral | None | None | None | None | N |
| A/W | 0.5046 | ambiguous | 0.5839 | pathogenic | -1.597 | Destabilizing | 0.864 | D | 0.657 | neutral | None | None | None | None | N |
| A/Y | 0.287 | likely_benign | 0.3308 | benign | -1.169 | Destabilizing | 0.356 | N | 0.643 | neutral | 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.