Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 15552 | 46879;46880;46881 | chr2:178619663;178619662;178619661 | chr2:179484390;179484389;179484388 |
N2AB | 13911 | 41956;41957;41958 | chr2:178619663;178619662;178619661 | chr2:179484390;179484389;179484388 |
N2A | 12984 | 39175;39176;39177 | chr2:178619663;178619662;178619661 | chr2:179484390;179484389;179484388 |
N2B | 6487 | 19684;19685;19686 | chr2:178619663;178619662;178619661 | chr2:179484390;179484389;179484388 |
Novex-1 | 6612 | 20059;20060;20061 | chr2:178619663;178619662;178619661 | chr2:179484390;179484389;179484388 |
Novex-2 | 6679 | 20260;20261;20262 | chr2:178619663;178619662;178619661 | chr2:179484390;179484389;179484388 |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/T | rs1292128337 | -2.11 | 0.822 | N | 0.678 | 0.285 | 0.675543170505 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
I/T | rs1292128337 | -2.11 | 0.822 | N | 0.678 | 0.285 | 0.675543170505 | gnomAD-4.0.0 | 3.18972E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.42365E-04 | 2.86513E-06 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/A | 0.435 | ambiguous | 0.4327 | ambiguous | -2.295 | Highly Destabilizing | 0.754 | D | 0.681 | prob.neutral | None | None | None | None | N |
I/C | 0.7744 | likely_pathogenic | 0.7508 | pathogenic | -1.494 | Destabilizing | 0.994 | D | 0.711 | prob.delet. | None | None | None | None | N |
I/D | 0.9387 | likely_pathogenic | 0.9249 | pathogenic | -2.358 | Highly Destabilizing | 0.993 | D | 0.813 | deleterious | None | None | None | None | N |
I/E | 0.7706 | likely_pathogenic | 0.729 | pathogenic | -2.166 | Highly Destabilizing | 0.978 | D | 0.805 | deleterious | None | None | None | None | N |
I/F | 0.2431 | likely_benign | 0.2453 | benign | -1.29 | Destabilizing | 0.942 | D | 0.665 | neutral | N | 0.510809462 | None | None | N |
I/G | 0.8698 | likely_pathogenic | 0.8476 | pathogenic | -2.809 | Highly Destabilizing | 0.978 | D | 0.797 | deleterious | None | None | None | None | N |
I/H | 0.6245 | likely_pathogenic | 0.6009 | pathogenic | -2.226 | Highly Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | N |
I/K | 0.3815 | ambiguous | 0.3808 | ambiguous | -1.674 | Destabilizing | 0.978 | D | 0.801 | deleterious | None | None | None | None | N |
I/L | 0.1564 | likely_benign | 0.1593 | benign | -0.832 | Destabilizing | 0.294 | N | 0.423 | neutral | N | 0.496345655 | None | None | N |
I/M | 0.1431 | likely_benign | 0.1468 | benign | -0.774 | Destabilizing | 0.942 | D | 0.661 | neutral | N | 0.510809462 | None | None | N |
I/N | 0.6222 | likely_pathogenic | 0.6014 | pathogenic | -1.882 | Destabilizing | 0.99 | D | 0.82 | deleterious | N | 0.508416315 | None | None | N |
I/P | 0.982 | likely_pathogenic | 0.9825 | pathogenic | -1.298 | Destabilizing | 0.993 | D | 0.817 | deleterious | None | None | None | None | N |
I/Q | 0.51 | ambiguous | 0.4612 | ambiguous | -1.793 | Destabilizing | 0.993 | D | 0.815 | deleterious | None | None | None | None | N |
I/R | 0.2992 | likely_benign | 0.296 | benign | -1.364 | Destabilizing | 0.978 | D | 0.82 | deleterious | None | None | None | None | N |
I/S | 0.4599 | ambiguous | 0.4463 | ambiguous | -2.586 | Highly Destabilizing | 0.942 | D | 0.754 | deleterious | N | 0.506197063 | None | None | N |
I/T | 0.2084 | likely_benign | 0.2303 | benign | -2.258 | Highly Destabilizing | 0.822 | D | 0.678 | prob.neutral | N | 0.493388236 | None | None | N |
I/V | 0.0824 | likely_benign | 0.0882 | benign | -1.298 | Destabilizing | 0.006 | N | 0.299 | neutral | N | 0.431149027 | None | None | N |
I/W | 0.8305 | likely_pathogenic | 0.8286 | pathogenic | -1.656 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
I/Y | 0.6776 | likely_pathogenic | 0.6431 | pathogenic | -1.36 | Destabilizing | 0.978 | D | 0.73 | prob.delet. | 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.