Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29503 | 88732;88733;88734 | chr2:178554952;178554951;178554950 | chr2:179419679;179419678;179419677 |
| N2AB | 27862 | 83809;83810;83811 | chr2:178554952;178554951;178554950 | chr2:179419679;179419678;179419677 |
| N2A | 26935 | 81028;81029;81030 | chr2:178554952;178554951;178554950 | chr2:179419679;179419678;179419677 |
| N2B | 20438 | 61537;61538;61539 | chr2:178554952;178554951;178554950 | chr2:179419679;179419678;179419677 |
| Novex-1 | 20563 | 61912;61913;61914 | chr2:178554952;178554951;178554950 | chr2:179419679;179419678;179419677 |
| Novex-2 | 20630 | 62113;62114;62115 | chr2:178554952;178554951;178554950 | chr2:179419679;179419678;179419677 |
| 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 | rs1403452380  |
None | 0.865 | N | 0.509 | 0.293 | 0.324986149311 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs1403452380 |
None | 0.865 | N | 0.509 | 0.293 | 0.324986149311 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1403452380 |
None | 0.039 | N | 0.311 | 0.194 | 0.275641507738 | 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/T | rs1403452380 |
None | 0.039 | N | 0.311 | 0.194 | 0.275641507738 | gnomAD-4.0.0 | 5.07471E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02456E-06 | 0 | 0 |
| A/V | rs1224421468 |
-0.534 | 0.865 | N | 0.575 | 0.287 | 0.536287059136 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1224421468 |
-0.534 | 0.865 | N | 0.575 | 0.287 | 0.536287059136 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1224421468 |
-0.534 | 0.865 | N | 0.575 | 0.287 | 0.536287059136 | gnomAD-4.0.0 | 6.57263E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.5088 | ambiguous | 0.5427 | ambiguous | -1.525 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| A/D | 0.9496 | likely_pathogenic | 0.9649 | pathogenic | -2.107 | Highly Destabilizing | 0.978 | D | 0.747 | deleterious | N | 0.516921906 | None | None | N |
| A/E | 0.9401 | likely_pathogenic | 0.9582 | pathogenic | -2.135 | Highly Destabilizing | 0.983 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/F | 0.9206 | likely_pathogenic | 0.9441 | pathogenic | -1.301 | Destabilizing | 0.992 | D | 0.778 | deleterious | None | None | None | None | N |
| A/G | 0.2945 | likely_benign | 0.3296 | benign | -1.108 | Destabilizing | 0.928 | D | 0.563 | neutral | D | 0.533198404 | None | None | N |
| A/H | 0.9596 | likely_pathogenic | 0.9715 | pathogenic | -1.125 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| A/I | 0.5707 | likely_pathogenic | 0.6258 | pathogenic | -0.475 | Destabilizing | 0.983 | D | 0.754 | deleterious | None | None | None | None | N |
| A/K | 0.9682 | likely_pathogenic | 0.9776 | pathogenic | -1.127 | Destabilizing | 0.983 | D | 0.743 | deleterious | None | None | None | None | N |
| A/L | 0.6098 | likely_pathogenic | 0.6709 | pathogenic | -0.475 | Destabilizing | 0.895 | D | 0.645 | neutral | None | None | None | None | N |
| A/M | 0.618 | likely_pathogenic | 0.686 | pathogenic | -0.546 | Destabilizing | 0.998 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/N | 0.8581 | likely_pathogenic | 0.9013 | pathogenic | -1.142 | Destabilizing | 0.983 | D | 0.759 | deleterious | None | None | None | None | N |
| A/P | 0.7928 | likely_pathogenic | 0.817 | pathogenic | -0.581 | Destabilizing | 0.989 | D | 0.771 | deleterious | D | 0.537412145 | None | None | N |
| A/Q | 0.9229 | likely_pathogenic | 0.9412 | pathogenic | -1.397 | Destabilizing | 0.992 | D | 0.774 | deleterious | None | None | None | None | N |
| A/R | 0.9377 | likely_pathogenic | 0.9539 | pathogenic | -0.754 | Destabilizing | 0.983 | D | 0.773 | deleterious | None | None | None | None | N |
| A/S | 0.1508 | likely_benign | 0.1697 | benign | -1.408 | Destabilizing | 0.865 | D | 0.509 | neutral | N | 0.485809889 | None | None | N |
| A/T | 0.1141 | likely_benign | 0.1438 | benign | -1.356 | Destabilizing | 0.039 | N | 0.311 | neutral | N | 0.479075918 | None | None | N |
| A/V | 0.2332 | likely_benign | 0.2601 | benign | -0.581 | Destabilizing | 0.865 | D | 0.575 | neutral | N | 0.475816608 | None | None | N |
| A/W | 0.9879 | likely_pathogenic | 0.9911 | pathogenic | -1.59 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9659 | likely_pathogenic | 0.9768 | pathogenic | -1.154 | Destabilizing | 0.997 | D | 0.774 | 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.