Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19790 | 59593;59594;59595 | chr2:178592637;178592636;178592635 | chr2:179457364;179457363;179457362 |
| N2AB | 18149 | 54670;54671;54672 | chr2:178592637;178592636;178592635 | chr2:179457364;179457363;179457362 |
| N2A | 17222 | 51889;51890;51891 | chr2:178592637;178592636;178592635 | chr2:179457364;179457363;179457362 |
| N2B | 10725 | 32398;32399;32400 | chr2:178592637;178592636;178592635 | chr2:179457364;179457363;179457362 |
| Novex-1 | 10850 | 32773;32774;32775 | chr2:178592637;178592636;178592635 | chr2:179457364;179457363;179457362 |
| Novex-2 | 10917 | 32974;32975;32976 | chr2:178592637;178592636;178592635 | chr2:179457364;179457363;179457362 |
| 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 | None | None | 1.0 | N | 0.707 | 0.436 | 0.669824099912 | gnomAD-4.0.0 | 6.8448E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9968E-07 | 0 | 0 |
| A/V | rs1410710532  |
-0.576 | 0.984 | N | 0.572 | 0.382 | 0.539879176108 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| A/V | rs1410710532 |
-0.576 | 0.984 | N | 0.572 | 0.382 | 0.539879176108 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| A/V | rs1410710532 |
-0.576 | 0.984 | N | 0.572 | 0.382 | 0.539879176108 | gnomAD-4.0.0 | 1.8599E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4782E-07 | 2.19679E-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 | 0.7842 | likely_pathogenic | 0.8365 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/D | 0.8032 | likely_pathogenic | 0.8784 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.488664843 | None | None | N |
| A/E | 0.7337 | likely_pathogenic | 0.8263 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/F | 0.7753 | likely_pathogenic | 0.8257 | pathogenic | -1.054 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/G | 0.3191 | likely_benign | 0.3392 | benign | -0.374 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.487397396 | None | None | N |
| A/H | 0.8413 | likely_pathogenic | 0.8872 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/I | 0.6278 | likely_pathogenic | 0.6939 | pathogenic | -0.601 | Destabilizing | 0.996 | D | 0.68 | prob.neutral | None | None | None | None | N |
| A/K | 0.8584 | likely_pathogenic | 0.9252 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/L | 0.4804 | ambiguous | 0.5709 | pathogenic | -0.601 | Destabilizing | 0.335 | N | 0.372 | neutral | None | None | None | None | N |
| A/M | 0.5739 | likely_pathogenic | 0.6312 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/N | 0.6962 | likely_pathogenic | 0.74 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/P | 0.4568 | ambiguous | 0.6069 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.488664843 | None | None | N |
| A/Q | 0.6872 | likely_pathogenic | 0.7506 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/R | 0.7501 | likely_pathogenic | 0.859 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| A/S | 0.2054 | likely_benign | 0.2112 | benign | -0.563 | Destabilizing | 0.999 | D | 0.563 | neutral | D | 0.530168381 | None | None | N |
| A/T | 0.3017 | likely_benign | 0.3541 | ambiguous | -0.639 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.487397396 | None | None | N |
| A/V | 0.3556 | ambiguous | 0.4412 | ambiguous | -0.51 | Destabilizing | 0.984 | D | 0.572 | neutral | N | 0.486890417 | None | None | N |
| A/W | 0.9331 | likely_pathogenic | 0.9616 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/Y | 0.8418 | likely_pathogenic | 0.8916 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.744 | deleterious | 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.