Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8576 | 25951;25952;25953 | chr2:178715688;178715687;178715686 | chr2:179580415;179580414;179580413 |
| N2AB | 8259 | 25000;25001;25002 | chr2:178715688;178715687;178715686 | chr2:179580415;179580414;179580413 |
| N2A | 7332 | 22219;22220;22221 | chr2:178715688;178715687;178715686 | chr2:179580415;179580414;179580413 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs376095355  |
-0.74 | 1.0 | N | 0.592 | 0.45 | None | gnomAD-2.1.1 | 8.2E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.09E-06 | 1.68577E-04 |
| S/F | rs376095355 |
-0.74 | 1.0 | N | 0.592 | 0.45 | None | gnomAD-4.0.0 | 1.16503E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.1706E-05 | 0 | 6.63768E-05 |
| S/P | rs1176708240 |
-0.081 | 0.998 | D | 0.431 | 0.492 | 0.52628473709 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
| S/P | rs1176708240 |
-0.081 | 0.998 | D | 0.431 | 0.492 | 0.52628473709 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07814E-04 | 0 |
| S/P | rs1176708240 |
-0.081 | 0.998 | D | 0.431 | 0.492 | 0.52628473709 | gnomAD-4.0.0 | 6.42695E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.24115E-04 | 0 | 5.39345E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1493 | likely_benign | 0.1649 | benign | -0.099 | Destabilizing | 0.457 | N | 0.289 | neutral | D | 0.535270343 | None | None | I |
| S/C | 0.3975 | ambiguous | 0.4504 | ambiguous | -0.307 | Destabilizing | 1.0 | D | 0.457 | neutral | N | 0.509699295 | None | None | I |
| S/D | 0.7426 | likely_pathogenic | 0.7518 | pathogenic | -0.025 | Destabilizing | 0.987 | D | 0.324 | neutral | None | None | None | None | I |
| S/E | 0.8084 | likely_pathogenic | 0.825 | pathogenic | -0.131 | Destabilizing | 0.99 | D | 0.317 | neutral | None | None | None | None | I |
| S/F | 0.2105 | likely_benign | 0.2423 | benign | -0.789 | Destabilizing | 1.0 | D | 0.592 | neutral | N | 0.493481144 | None | None | I |
| S/G | 0.2302 | likely_benign | 0.2706 | benign | -0.165 | Destabilizing | 0.993 | D | 0.333 | neutral | None | None | None | None | I |
| S/H | 0.5429 | ambiguous | 0.5659 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.454 | neutral | None | None | None | None | I |
| S/I | 0.29 | likely_benign | 0.3305 | benign | -0.057 | Destabilizing | 0.998 | D | 0.537 | neutral | None | None | None | None | I |
| S/K | 0.8914 | likely_pathogenic | 0.9047 | pathogenic | -0.432 | Destabilizing | 0.993 | D | 0.321 | neutral | None | None | None | None | I |
| S/L | 0.125 | likely_benign | 0.1417 | benign | -0.057 | Destabilizing | 0.993 | D | 0.534 | neutral | None | None | None | None | I |
| S/M | 0.2784 | likely_benign | 0.303 | benign | -0.052 | Destabilizing | 1.0 | D | 0.457 | neutral | None | None | None | None | I |
| S/N | 0.3047 | likely_benign | 0.3298 | benign | -0.129 | Destabilizing | 0.897 | D | 0.343 | neutral | None | None | None | None | I |
| S/P | 0.8661 | likely_pathogenic | 0.8911 | pathogenic | -0.045 | Destabilizing | 0.998 | D | 0.431 | neutral | D | 0.52582854 | None | None | I |
| S/Q | 0.724 | likely_pathogenic | 0.75 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.369 | neutral | None | None | None | None | I |
| S/R | 0.8628 | likely_pathogenic | 0.8829 | pathogenic | -0.177 | Destabilizing | 0.999 | D | 0.435 | neutral | None | None | None | None | I |
| S/T | 0.1041 | likely_benign | 0.105 | benign | -0.221 | Destabilizing | 0.006 | N | 0.179 | neutral | N | 0.513817635 | None | None | I |
| S/V | 0.2976 | likely_benign | 0.3366 | benign | -0.045 | Destabilizing | 0.981 | D | 0.524 | neutral | None | None | None | None | I |
| S/W | 0.4836 | ambiguous | 0.5253 | ambiguous | -0.881 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| S/Y | 0.2462 | likely_benign | 0.269 | benign | -0.561 | Destabilizing | 1.0 | D | 0.599 | neutral | D | 0.526690932 | None | None | I |
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.