Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5579 | 16960;16961;16962 | chr2:178732234;178732233;178732232 | chr2:179596961;179596960;179596959 |
| N2AB | 5262 | 16009;16010;16011 | chr2:178732234;178732233;178732232 | chr2:179596961;179596960;179596959 |
| N2A | 4335 | 13228;13229;13230 | chr2:178732234;178732233;178732232 | chr2:179596961;179596960;179596959 |
| 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/S | rs747856086  |
-1.142 | 0.001 | N | 0.171 | 0.117 | 0.0666544352282 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | None | None | 0.012 | N | 0.459 | 0.124 | 0.0846915920261 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85817E-06 | 0 | 0 |
| A/V | rs2080673398 |
None | None | N | 0.139 | 0.09 | 0.0846915920261 | 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/V | rs2080673398 |
None | None | N | 0.139 | 0.09 | 0.0846915920261 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 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 | 0.2317 | likely_benign | 0.2512 | benign | -0.941 | Destabilizing | 0.356 | N | 0.647 | neutral | None | None | None | None | N |
| A/D | 0.2595 | likely_benign | 0.2782 | benign | -1.847 | Destabilizing | 0.072 | N | 0.649 | neutral | None | None | None | None | N |
| A/E | 0.1959 | likely_benign | 0.1969 | benign | -1.803 | Destabilizing | 0.012 | N | 0.591 | neutral | N | 0.446434197 | None | None | N |
| A/F | 0.167 | likely_benign | 0.1812 | benign | -1.004 | Destabilizing | 0.214 | N | 0.725 | prob.delet. | None | None | None | None | N |
| A/G | 0.1189 | likely_benign | 0.1304 | benign | -1.39 | Destabilizing | 0.012 | N | 0.457 | neutral | N | 0.38717525 | None | None | N |
| A/H | 0.24 | likely_benign | 0.2516 | benign | -1.762 | Destabilizing | 0.356 | N | 0.678 | prob.neutral | None | None | None | None | N |
| A/I | 0.1053 | likely_benign | 0.113 | benign | -0.217 | Destabilizing | None | N | 0.4 | neutral | None | None | None | None | N |
| A/K | 0.2141 | likely_benign | 0.2125 | benign | -1.275 | Destabilizing | None | N | 0.354 | neutral | None | None | None | None | N |
| A/L | 0.0924 | likely_benign | 0.0958 | benign | -0.217 | Destabilizing | 0.006 | N | 0.509 | neutral | None | None | None | None | N |
| A/M | 0.1243 | likely_benign | 0.1349 | benign | -0.13 | Destabilizing | 0.214 | N | 0.717 | prob.delet. | None | None | None | None | N |
| A/N | 0.1691 | likely_benign | 0.1835 | benign | -1.147 | Destabilizing | 0.038 | N | 0.673 | neutral | None | None | None | None | N |
| A/P | 0.6009 | likely_pathogenic | 0.6505 | pathogenic | -0.451 | Destabilizing | 0.106 | N | 0.696 | prob.neutral | N | 0.393909221 | None | None | N |
| A/Q | 0.1839 | likely_benign | 0.184 | benign | -1.205 | Destabilizing | 0.072 | N | 0.727 | prob.delet. | None | None | None | None | N |
| A/R | 0.1822 | likely_benign | 0.1768 | benign | -1.078 | Destabilizing | 0.038 | N | 0.622 | neutral | None | None | None | None | N |
| A/S | 0.078 | likely_benign | 0.0798 | benign | -1.501 | Destabilizing | 0.001 | N | 0.171 | neutral | N | 0.379190485 | None | None | N |
| A/T | 0.0722 | likely_benign | 0.0751 | benign | -1.359 | Destabilizing | 0.012 | N | 0.459 | neutral | N | 0.386828533 | None | None | N |
| A/V | 0.0696 | likely_benign | 0.0709 | benign | -0.451 | Destabilizing | None | N | 0.139 | neutral | N | 0.386308458 | None | None | N |
| A/W | 0.4429 | ambiguous | 0.475 | ambiguous | -1.553 | Destabilizing | 0.864 | D | 0.714 | prob.delet. | None | None | None | None | N |
| A/Y | 0.2422 | likely_benign | 0.2702 | benign | -1.087 | Destabilizing | 0.356 | N | 0.709 | prob.delet. | 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.