Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31203 | 93832;93833;93834 | chr2:178548019;178548018;178548017 | chr2:179412746;179412745;179412744 |
| N2AB | 29562 | 88909;88910;88911 | chr2:178548019;178548018;178548017 | chr2:179412746;179412745;179412744 |
| N2A | 28635 | 86128;86129;86130 | chr2:178548019;178548018;178548017 | chr2:179412746;179412745;179412744 |
| N2B | 22138 | 66637;66638;66639 | chr2:178548019;178548018;178548017 | chr2:179412746;179412745;179412744 |
| Novex-1 | 22263 | 67012;67013;67014 | chr2:178548019;178548018;178548017 | chr2:179412746;179412745;179412744 |
| Novex-2 | 22330 | 67213;67214;67215 | chr2:178548019;178548018;178548017 | chr2:179412746;179412745;179412744 |
| 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/C | rs1208518110  |
-0.335 | 0.994 | N | 0.721 | 0.354 | 0.44143026662 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs1208518110 |
-0.335 | 0.994 | N | 0.721 | 0.354 | 0.44143026662 | gnomAD-4.0.0 | 6.36485E-06 | None | None | None | None | N | None | 0 | 6.86059E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02407E-05 |
| S/P | rs1553528649 |
None | 0.979 | N | 0.732 | 0.302 | 0.311387274539 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0715 | likely_benign | 0.0727 | benign | -0.42 | Destabilizing | 0.307 | N | 0.363 | neutral | N | 0.433665262 | None | None | N |
| S/C | 0.1364 | likely_benign | 0.135 | benign | -0.345 | Destabilizing | 0.994 | D | 0.721 | deleterious | N | 0.471160839 | None | None | N |
| S/D | 0.6768 | likely_pathogenic | 0.5954 | pathogenic | 0.113 | Stabilizing | 0.74 | D | 0.525 | neutral | None | None | None | None | N |
| S/E | 0.7643 | likely_pathogenic | 0.6905 | pathogenic | 0.041 | Stabilizing | 0.852 | D | 0.539 | neutral | None | None | None | None | N |
| S/F | 0.4094 | ambiguous | 0.3592 | ambiguous | -0.858 | Destabilizing | 0.979 | D | 0.819 | deleterious | N | 0.516587716 | None | None | N |
| S/G | 0.1098 | likely_benign | 0.1125 | benign | -0.578 | Destabilizing | 0.004 | N | 0.166 | neutral | None | None | None | None | N |
| S/H | 0.5442 | ambiguous | 0.4846 | ambiguous | -1.079 | Destabilizing | 0.996 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/I | 0.3853 | ambiguous | 0.3556 | ambiguous | -0.131 | Destabilizing | 0.984 | D | 0.798 | deleterious | None | None | None | None | N |
| S/K | 0.8696 | likely_pathogenic | 0.8027 | pathogenic | -0.559 | Destabilizing | 0.74 | D | 0.549 | neutral | None | None | None | None | N |
| S/L | 0.1705 | likely_benign | 0.1563 | benign | -0.131 | Destabilizing | 0.953 | D | 0.654 | prob.neutral | None | None | None | None | N |
| S/M | 0.3376 | likely_benign | 0.332 | benign | 0.084 | Stabilizing | 0.996 | D | 0.725 | deleterious | None | None | None | None | N |
| S/N | 0.2605 | likely_benign | 0.2402 | benign | -0.308 | Destabilizing | 0.74 | D | 0.523 | neutral | None | None | None | None | N |
| S/P | 0.0972 | likely_benign | 0.0933 | benign | -0.196 | Destabilizing | 0.979 | D | 0.732 | deleterious | N | 0.443594254 | None | None | N |
| S/Q | 0.6708 | likely_pathogenic | 0.6237 | pathogenic | -0.543 | Destabilizing | 0.984 | D | 0.621 | neutral | None | None | None | None | N |
| S/R | 0.7995 | likely_pathogenic | 0.7062 | pathogenic | -0.37 | Destabilizing | 0.953 | D | 0.729 | deleterious | None | None | None | None | N |
| S/T | 0.1122 | likely_benign | 0.1056 | benign | -0.403 | Destabilizing | 0.813 | D | 0.379 | neutral | N | 0.462988091 | None | None | N |
| S/V | 0.2895 | likely_benign | 0.2658 | benign | -0.196 | Destabilizing | 0.953 | D | 0.757 | deleterious | None | None | None | None | N |
| S/W | 0.53 | ambiguous | 0.4458 | ambiguous | -0.841 | Destabilizing | 0.996 | D | 0.779 | deleterious | None | None | None | None | N |
| S/Y | 0.3457 | ambiguous | 0.2884 | benign | -0.573 | Destabilizing | 0.979 | D | 0.809 | deleterious | N | 0.508413737 | 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.