Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23295 | 70108;70109;70110 | chr2:178576249;178576248;178576247 | chr2:179440976;179440975;179440974 |
| N2AB | 21654 | 65185;65186;65187 | chr2:178576249;178576248;178576247 | chr2:179440976;179440975;179440974 |
| N2A | 20727 | 62404;62405;62406 | chr2:178576249;178576248;178576247 | chr2:179440976;179440975;179440974 |
| N2B | 14230 | 42913;42914;42915 | chr2:178576249;178576248;178576247 | chr2:179440976;179440975;179440974 |
| Novex-1 | 14355 | 43288;43289;43290 | chr2:178576249;178576248;178576247 | chr2:179440976;179440975;179440974 |
| Novex-2 | 14422 | 43489;43490;43491 | chr2:178576249;178576248;178576247 | chr2:179440976;179440975;179440974 |
| 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 | 0.549 | N | 0.622 | 0.174 | 0.438278051908 | 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 |
| A/T | rs746519147  |
-0.972 | 0.009 | N | 0.262 | 0.075 | None | gnomAD-2.1.1 | 3.25E-05 | None | None | None | None | N | None | 1.29921E-04 | 0 | None | 0 | 0 | None | 1.64658E-04 | None | 0 | 9E-06 | 0 |
| A/T | rs746519147 |
-0.972 | 0.009 | N | 0.262 | 0.075 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs746519147 |
-0.972 | 0.009 | N | 0.262 | 0.075 | None | gnomAD-4.0.0 | 1.05453E-05 | None | None | None | None | N | None | 5.34731E-05 | 0 | None | 0 | 0 | None | 1.56617E-05 | 0 | 2.54422E-06 | 8.80437E-05 | 1.60277E-05 |
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 | 0.454 | ambiguous | 0.3926 | ambiguous | -0.736 | Destabilizing | 0.992 | D | 0.632 | neutral | None | None | None | None | N |
| A/D | 0.3763 | ambiguous | 0.3577 | ambiguous | 0.074 | Stabilizing | 0.549 | D | 0.622 | neutral | N | 0.441884887 | None | None | N |
| A/E | 0.3149 | likely_benign | 0.3002 | benign | -0.044 | Destabilizing | 0.617 | D | 0.617 | neutral | None | None | None | None | N |
| A/F | 0.3965 | ambiguous | 0.3528 | ambiguous | -0.722 | Destabilizing | 0.92 | D | 0.607 | neutral | None | None | None | None | N |
| A/G | 0.155 | likely_benign | 0.1183 | benign | -0.437 | Destabilizing | 0.004 | N | 0.28 | neutral | N | 0.427379582 | None | None | N |
| A/H | 0.4651 | ambiguous | 0.4393 | ambiguous | -0.503 | Destabilizing | 0.992 | D | 0.599 | neutral | None | None | None | None | N |
| A/I | 0.255 | likely_benign | 0.2368 | benign | -0.198 | Destabilizing | 0.739 | D | 0.647 | neutral | None | None | None | None | N |
| A/K | 0.4702 | ambiguous | 0.4153 | ambiguous | -0.536 | Destabilizing | 0.617 | D | 0.617 | neutral | None | None | None | None | N |
| A/L | 0.1747 | likely_benign | 0.1497 | benign | -0.198 | Destabilizing | 0.447 | N | 0.571 | neutral | None | None | None | None | N |
| A/M | 0.2357 | likely_benign | 0.2199 | benign | -0.328 | Destabilizing | 0.977 | D | 0.596 | neutral | None | None | None | None | N |
| A/N | 0.2461 | likely_benign | 0.2349 | benign | -0.191 | Destabilizing | 0.85 | D | 0.634 | neutral | None | None | None | None | N |
| A/P | 0.1118 | likely_benign | 0.1111 | benign | -0.201 | Destabilizing | 0.004 | N | 0.396 | neutral | N | 0.343915623 | None | None | N |
| A/Q | 0.3274 | likely_benign | 0.308 | benign | -0.395 | Destabilizing | 0.92 | D | 0.649 | neutral | None | None | None | None | N |
| A/R | 0.4445 | ambiguous | 0.3871 | ambiguous | -0.225 | Destabilizing | 0.85 | D | 0.64 | neutral | None | None | None | None | N |
| A/S | 0.0985 | likely_benign | 0.0974 | benign | -0.53 | Destabilizing | 0.39 | N | 0.572 | neutral | N | 0.394688373 | None | None | N |
| A/T | 0.0927 | likely_benign | 0.0982 | benign | -0.55 | Destabilizing | 0.009 | N | 0.262 | neutral | N | 0.409367037 | None | None | N |
| A/V | 0.1416 | likely_benign | 0.1313 | benign | -0.201 | Destabilizing | 0.379 | N | 0.603 | neutral | N | 0.400288981 | None | None | N |
| A/W | 0.7781 | likely_pathogenic | 0.7099 | pathogenic | -0.893 | Destabilizing | 0.992 | D | 0.659 | neutral | None | None | None | None | N |
| A/Y | 0.4746 | ambiguous | 0.4207 | ambiguous | -0.517 | Destabilizing | 0.972 | D | 0.614 | 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.