Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19443 | 58552;58553;58554 | chr2:178594066;178594065;178594064 | chr2:179458793;179458792;179458791 |
| N2AB | 17802 | 53629;53630;53631 | chr2:178594066;178594065;178594064 | chr2:179458793;179458792;179458791 |
| N2A | 16875 | 50848;50849;50850 | chr2:178594066;178594065;178594064 | chr2:179458793;179458792;179458791 |
| N2B | 10378 | 31357;31358;31359 | chr2:178594066;178594065;178594064 | chr2:179458793;179458792;179458791 |
| Novex-1 | 10503 | 31732;31733;31734 | chr2:178594066;178594065;178594064 | chr2:179458793;179458792;179458791 |
| Novex-2 | 10570 | 31933;31934;31935 | chr2:178594066;178594065;178594064 | chr2:179458793;179458792;179458791 |
| 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 | None | None | None | N | 0.139 | 0.105 | 0.163833314356 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| A/T | None | None | 0.001 | N | 0.204 | 0.072 | 0.201204373187 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| A/V | rs1360001030  |
1.206 | 0.193 | N | 0.517 | 0.142 | 0.348324211639 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1360001030 |
1.206 | 0.193 | N | 0.517 | 0.142 | 0.348324211639 | gnomAD-4.0.0 | 1.59184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 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 | 0.2171 | likely_benign | 0.1911 | benign | -1.071 | Destabilizing | 0.002 | N | 0.213 | neutral | None | None | None | None | N |
| A/D | 0.3563 | ambiguous | 0.3704 | ambiguous | -1.809 | Destabilizing | 0.324 | N | 0.634 | neutral | N | 0.482014648 | None | None | N |
| A/E | 0.2441 | likely_benign | 0.2509 | benign | -1.653 | Destabilizing | 0.241 | N | 0.606 | neutral | None | None | None | None | N |
| A/F | 0.1681 | likely_benign | 0.1732 | benign | -0.671 | Destabilizing | 0.818 | D | 0.648 | neutral | None | None | None | None | N |
| A/G | 0.1386 | likely_benign | 0.1442 | benign | -1.379 | Destabilizing | 0.09 | N | 0.527 | neutral | N | 0.459292504 | None | None | N |
| A/H | 0.2757 | likely_benign | 0.2801 | benign | -1.806 | Destabilizing | 0.944 | D | 0.62 | neutral | None | None | None | None | N |
| A/I | 0.1428 | likely_benign | 0.1356 | benign | 0.28 | Stabilizing | 0.241 | N | 0.632 | neutral | None | None | None | None | N |
| A/K | 0.3597 | ambiguous | 0.3609 | ambiguous | -1.044 | Destabilizing | 0.241 | N | 0.605 | neutral | None | None | None | None | N |
| A/L | 0.1112 | likely_benign | 0.1107 | benign | 0.28 | Stabilizing | 0.116 | N | 0.559 | neutral | None | None | None | None | N |
| A/M | 0.1479 | likely_benign | 0.1415 | benign | 0.019 | Stabilizing | 0.818 | D | 0.613 | neutral | None | None | None | None | N |
| A/N | 0.2207 | likely_benign | 0.2228 | benign | -1.2 | Destabilizing | 0.241 | N | 0.649 | neutral | None | None | None | None | N |
| A/P | 0.9224 | likely_pathogenic | 0.9257 | pathogenic | -0.073 | Destabilizing | 0.773 | D | 0.652 | neutral | N | 0.493309077 | None | None | N |
| A/Q | 0.2406 | likely_benign | 0.2433 | benign | -1.066 | Destabilizing | 0.69 | D | 0.644 | neutral | None | None | None | None | N |
| A/R | 0.2985 | likely_benign | 0.2933 | benign | -1.119 | Destabilizing | 0.69 | D | 0.653 | neutral | None | None | None | None | N |
| A/S | 0.074 | likely_benign | 0.0754 | benign | -1.661 | Destabilizing | None | N | 0.139 | neutral | N | 0.354874483 | None | None | N |
| A/T | 0.0675 | likely_benign | 0.0658 | benign | -1.37 | Destabilizing | 0.001 | N | 0.204 | neutral | N | 0.394102088 | None | None | N |
| A/V | 0.0939 | likely_benign | 0.0884 | benign | -0.073 | Destabilizing | 0.193 | N | 0.517 | neutral | N | 0.428142878 | None | None | N |
| A/W | 0.4995 | ambiguous | 0.5149 | ambiguous | -1.366 | Destabilizing | 0.981 | D | 0.652 | neutral | None | None | None | None | N |
| A/Y | 0.2507 | likely_benign | 0.2515 | benign | -0.784 | Destabilizing | 0.818 | D | 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.